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Fanconi anemia, complementation group D2(FANCD2)

MedGen UID:
463627
Concept ID:
C3160738
Disease or Syndrome
Synonyms: FANCD2; FANCD2-Related Fanconi Anemia; FANCONI ANEMIA, COMPLEMENTATION GROUP D; FANCONI PANCYTOPENIA, TYPE 4
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): FANCD2 (3p25.3)
OMIM®: 227646

Disease characteristics

Excerpted from the GeneReview: Fanconi Anemia
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors –particularly of the head and neck, skin, gastrointestinal tract, and genitourinary tract – are more common in individuals with FA. [from GeneReviews]
Authors:
Parinda A Mehta  |  Jakub Tolar   view full author information

Additional descriptions

From OMIM
Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650.  http://www.omim.org/entry/227646
From GHR
Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers.The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infections; and platelets, which are necessary for normal blood clotting. Approximately 90 percent of people with Fanconi anemia have impaired bone marrow function that leads to a decrease in the production of all blood cells (aplastic anemia). Affected individuals experience extreme tiredness (fatigue) due to low numbers of red blood cells (anemia), frequent infections due to low numbers of white blood cells (neutropenia), and clotting problems due to low numbers of platelets (thrombocytopenia). People with Fanconi anemia may also develop myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally.More than half of people with Fanconi anemia have physical abnormalities. These abnormalities can involve irregular skin coloring such as unusually light-colored skin (hypopigmentation) or café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. Other possible symptoms of Fanconi anemia include malformed thumbs or forearms and other skeletal problems including short stature; malformed or absent kidneys and other defects of the urinary tract; gastrointestinal abnormalities; heart defects; eye abnormalities such as small or abnormally shaped eyes; and malformed ears and hearing loss. People with this condition may have abnormal genitalia or malformations of the reproductive system. As a result, most affected males and about half of affected females cannot have biological children (are infertile). Additional signs and symptoms can include abnormalities of the brain and spinal cord (central nervous system), including increased fluid in the center of the brain (hydrocephalus) or an unusually small head size (microcephaly).Individuals with Fanconi anemia have an increased risk of developing a cancer of blood-forming cells in the bone marrow called acute myeloid leukemia (AML) or tumors of the head, neck, skin, gastrointestinal system, or genital tract. The likelihood of developing one of these cancers in people with Fanconi anemia is between 10 and 30 percent.  https://ghr.nlm.nih.gov/condition/fanconi-anemia

Clinical features

Abnormality of cardiovascular system morphology
MedGen UID:
852171
Concept ID:
CN234818
Finding
Any structural anomaly of the heart and great vessels.
Hypergonadotropic hypogonadism
MedGen UID:
184926
Concept ID:
C0948896
Disease or Syndrome
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
Microphthalmos
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Leukemia
MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. There are different types of leukemia, including. -Acute lymphocytic leukemia. -Acute myeloid leukemia. -Chronic lymphocytic leukemia. -Chronic myeloid leukemia. Leukemia can develop quickly or slowly. Chronic leukemia grows slowly. In acute leukemia, the cells are very abnormal and their number increases rapidly. Adults can get either type; children with leukemia most often have an acute type. Some leukemias can often be cured. Other types are hard to cure, but you can often control them. Treatments may include chemotherapy, radiation and stem cell transplantation. Even if symptoms disappear, you might need therapy to prevent a relapse. NIH: National Cancer Institute.
Horseshoe kidney
MedGen UID:
65140
Concept ID:
C0221353
Congenital Abnormality
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
Renal agenesis
MedGen UID:
98089
Concept ID:
C0426706
Finding
Hypergonadotropic hypogonadism
MedGen UID:
184926
Concept ID:
C0948896
Disease or Syndrome
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
Duplicated collecting system
MedGen UID:
346936
Concept ID:
C1858565
Anatomical Abnormality
A duplication of the collecting system of the kidney.
Ectopic kidney
MedGen UID:
504334
Concept ID:
CN000086
Finding
A developmental defect in which a kidney is located in an abnormal anatomic position.
Short thumb
MedGen UID:
98469
Concept ID:
C0431890
Congenital Abnormality
A congenital abnormality characterized by hypoplasia or absence of the thumb. It may be associated with other congenital abnormalities.
Absent radius
MedGen UID:
235613
Concept ID:
C1405984
Congenital Abnormality
Missing radius bone associated with congenital failure of development.
Absent thumb
MedGen UID:
480441
Concept ID:
C3278811
Finding
Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.
Complete duplication of thumb phalanx
MedGen UID:
767638
Concept ID:
C3554724
Finding
A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Finding
A general term for the complete or partial loss of the ability to hear from one or both ears.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Leukemia
MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. There are different types of leukemia, including. -Acute lymphocytic leukemia. -Acute myeloid leukemia. -Chronic lymphocytic leukemia. -Chronic myeloid leukemia. Leukemia can develop quickly or slowly. Chronic leukemia grows slowly. In acute leukemia, the cells are very abnormal and their number increases rapidly. Adults can get either type; children with leukemia most often have an acute type. Some leukemias can often be cured. Other types are hard to cure, but you can often control them. Treatments may include chemotherapy, radiation and stem cell transplantation. Even if symptoms disappear, you might need therapy to prevent a relapse. NIH: National Cancer Institute.
Pancytopenia
MedGen UID:
18281
Concept ID:
C0030312
Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Finding
A reduction in the number of circulating thrombocytes.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.
Reticulocytopenia
MedGen UID:
167812
Concept ID:
C0858867
Finding
A reduced number of reticulocytes in the peripheral blood.
Leukemia
MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. There are different types of leukemia, including. -Acute lymphocytic leukemia. -Acute myeloid leukemia. -Chronic lymphocytic leukemia. -Chronic myeloid leukemia. Leukemia can develop quickly or slowly. Chronic leukemia grows slowly. In acute leukemia, the cells are very abnormal and their number increases rapidly. Adults can get either type; children with leukemia most often have an acute type. Some leukemias can often be cured. Other types are hard to cure, but you can often control them. Treatments may include chemotherapy, radiation and stem cell transplantation. Even if symptoms disappear, you might need therapy to prevent a relapse. NIH: National Cancer Institute.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.
Chromosomal breakage induced by crosslinking agents
MedGen UID:
867372
Concept ID:
C4021737
Finding
Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.
Prolonged G2 phase of cell cycle
MedGen UID:
871165
Concept ID:
C4025639
Cell or Molecular Dysfunction
Deficient excision of UV-induced pyrimidine dimers in DNA
MedGen UID:
871166
Concept ID:
C4025640
Finding
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Short thumb
MedGen UID:
98469
Concept ID:
C0431890
Congenital Abnormality
A congenital abnormality characterized by hypoplasia or absence of the thumb. It may be associated with other congenital abnormalities.
Absent radius
MedGen UID:
235613
Concept ID:
C1405984
Congenital Abnormality
Missing radius bone associated with congenital failure of development.
Absent thumb
MedGen UID:
480441
Concept ID:
C3278811
Finding
Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.
Complete duplication of thumb phalanx
MedGen UID:
767638
Concept ID:
C3554724
Finding
A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism.
Microphthalmos
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Cafe-au-lait spot
MedGen UID:
113157
Concept ID:
C0221263
Finding
Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Abnormality of skin pigmentation
MedGen UID:
224697
Concept ID:
C1260926
Finding
An abnormality in the formation or distribution of pigment, especially in the skin.
Anemic pallor
MedGen UID:
428242
Concept ID:
CN000953
Finding
A type of pallor that is secondary to the presence of anemia.
Hypergonadotropic hypogonadism
MedGen UID:
184926
Concept ID:
C0948896
Disease or Syndrome
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.

Recent clinical studies

Etiology

Jaber S, Toufektchan E, Lejour V, Bardot B, Toledo F
Nat Commun 2016 Apr 1;7:11091. doi: 10.1038/ncomms11091. PMID: 27033104Free PMC Article
Renaud E, Barascu A, Rosselli F
Nucleic Acids Res 2016 Jan 29;44(2):648-56. Epub 2015 Oct 7 doi: 10.1093/nar/gkv1019. [Epub ahead of print] PMID: 26446986Free PMC Article
Matsuzaki K, Borel V, Adelman CA, Schindler D, Boulton SJ
Genes Dev 2015 Dec 15;29(24):2532-46. Epub 2015 Dec 4 doi: 10.1101/gad.272740.115. [Epub ahead of print] PMID: 26637282Free PMC Article
Rickman KA, Lach FP, Abhyankar A, Donovan FX, Sanborn EM, Kennedy JA, Sougnez C, Gabriel SB, Elemento O, Chandrasekharappa SC, Schindler D, Auerbach AD, Smogorzewska A
Cell Rep 2015 Jul 7;12(1):35-41. Epub 2015 Jun 25 doi: 10.1016/j.celrep.2015.06.014. [Epub ahead of print] PMID: 26119737Free PMC Article
Oka Y, Bekker-Jensen S, Mailand N
EMBO J 2015 May 12;34(10):1385-98. Epub 2015 Apr 9 doi: 10.15252/embj.201490376. [Epub ahead of print] PMID: 25862789Free PMC Article

Diagnosis

Dai CH, Li J, Chen P, Jiang HG, Wu M, Chen YC
J Biomed Sci 2015 Sep 18;22:77. doi: 10.1186/s12929-015-0185-4. [Epub ahead of print] PMID: 26385482Free PMC Article
Virts EL, Jankowska A, Mackay C, Glaas MF, Wiek C, Kelich SL, Lottmann N, Kennedy FM, Marchal C, Lehnert E, Scharf RE, Dufour C, Lanciotti M, Farruggia P, Santoro A, Savasan S, Scheckenbach K, Schipper J, Wagenmann M, Lewis T, Leffak M, Farlow JL, Foroud TM, Honisch E, Niederacher D, Chakraborty SC, Vance GH, Pruss D, Timms KM, Lanchbury JS, Alpi AF, Hanenberg H
Hum Mol Genet 2015 Sep 15;24(18):5093-108. Epub 2015 Jun 17 doi: 10.1093/hmg/ddv227. [Epub ahead of print] PMID: 26085575Free PMC Article
Lombardi AJ, Hoskins EE, Foglesong GD, Wikenheiser-Brokamp KA, Wiesmüller L, Hanenberg H, Andreassen PR, Jacobs AJ, Olson SB, Keeble WW, Hays LE, Wells SI
Clin Cancer Res 2015 Apr 15;21(8):1962-72. Epub 2015 Jan 21 doi: 10.1158/1078-0432.CCR-14-2616. [Epub ahead of print] PMID: 25609062Free PMC Article
Peng M, Xie J, Ucher A, Stavnezer J, Cantor SB
EMBO J 2014 Aug 1;33(15):1698-712. Epub 2014 Jun 25 doi: 10.15252/embj.201387530. [Epub ahead of print] PMID: 24966277Free PMC Article
Polito D, Cukras S, Wang X, Spence P, Moreau L, D'Andrea AD, Kee Y
J Biol Chem 2014 Mar 7;289(10):7003-10. Epub 2014 Jan 22 doi: 10.1074/jbc.M113.533976. [Epub ahead of print] PMID: 24451376Free PMC Article

Therapy

Bretz AC, Gittler MP, Charles JP, Gremke N, Eckhardt I, Mernberger M, Mandic R, Thomale J, Nist A, Wanzel M, Stiewe T
Nucleic Acids Res 2016 Apr 20;44(7):3204-18. Epub 2016 Jan 26 doi: 10.1093/nar/gkw036. [Epub ahead of print] PMID: 26819410Free PMC Article
Chen X, Bosques L, Sung P, Kupfer GM
Oncogene 2016 Jan 7;35(1):22-34. Epub 2015 Apr 20 doi: 10.1038/onc.2015.68. [Epub ahead of print] PMID: 25893307
Zhang QS, Benedetti E, Deater M, Schubert K, Major A, Pelz C, Impey S, Marquez-Loza L, Rathbun RK, Kato S, Bagby GC, Grompe M
Stem Cell Reports 2015 Jan 13;4(1):90-102. Epub 2014 Nov 26 doi: 10.1016/j.stemcr.2014.10.014. [Epub ahead of print] PMID: 25434823Free PMC Article
Ren X, Ji Z, McHale CM, Yuh J, Bersonda J, Tang M, Smith MT, Zhang L
Arch Toxicol 2013 Jan;87(1):189-96. Epub 2012 Aug 8 doi: 10.1007/s00204-012-0911-6. [Epub ahead of print] PMID: 22872141Free PMC Article
Rego MA, Harney JA, Mauro M, Shen M, Howlett NG
Oncogene 2012 Jan 19;31(3):366-75. Epub 2011 Jun 20 doi: 10.1038/onc.2011.237. [Epub ahead of print] PMID: 21685936Free PMC Article

Prognosis

Lombardi AJ, Hoskins EE, Foglesong GD, Wikenheiser-Brokamp KA, Wiesmüller L, Hanenberg H, Andreassen PR, Jacobs AJ, Olson SB, Keeble WW, Hays LE, Wells SI
Clin Cancer Res 2015 Apr 15;21(8):1962-72. Epub 2015 Jan 21 doi: 10.1158/1078-0432.CCR-14-2616. [Epub ahead of print] PMID: 25609062Free PMC Article
Smetsers S, Muter J, Bristow C, Patel L, Chandler K, Bonney D, Wynn RF, Whetton AD, Will AM, Rockx D, Joenje H, Strathdee G, Shanks J, Klopocki E, Gille JJ, Dorsman J, Meyer S
Fam Cancer 2012 Dec;11(4):661-5. doi: 10.1007/s10689-012-9553-3. PMID: 22829014
Kachnic LA, Li L, Fournier L, Willers H
Cancer Lett 2010 Jun 1;292(1):73-9. Epub 2010 Jan 19 doi: 10.1016/j.canlet.2009.11.009. [Epub ahead of print] PMID: 20034732
Donahue SL, Lundberg R, Campbell C
J Mol Biol 2004 Oct 1;342(5):1443-55. doi: 10.1016/j.jmb.2004.08.013. PMID: 15364573
Ferrer M, de Winter JP, Mastenbroek DC, Curiel DT, Gerritsen WR, Giaccone G, Kruyt FA
Cancer Gene Ther 2004 Aug;11(8):539-46. doi: 10.1038/sj.cgt.7700734. PMID: 15192709

Clinical prediction guides

Matsuzaki K, Borel V, Adelman CA, Schindler D, Boulton SJ
Genes Dev 2015 Dec 15;29(24):2532-46. Epub 2015 Dec 4 doi: 10.1101/gad.272740.115. [Epub ahead of print] PMID: 26637282Free PMC Article
Liang CC, Zhan B, Yoshikawa Y, Haas W, Gygi SP, Cohn MA
Cell Rep 2015 Mar 31;10(12):1947-56. Epub 2015 Mar 19 doi: 10.1016/j.celrep.2015.02.053. [Epub ahead of print] PMID: 25801034Free PMC Article
Yao C, Du W, Chen H, Xiao S, Huang L, Chen FP
Mol Med Rep 2015 Jun;11(6):4605-10. Epub 2015 Jan 30 doi: 10.3892/mmr.2015.3288. [Epub ahead of print] PMID: 25647473
Lombardi AJ, Hoskins EE, Foglesong GD, Wikenheiser-Brokamp KA, Wiesmüller L, Hanenberg H, Andreassen PR, Jacobs AJ, Olson SB, Keeble WW, Hays LE, Wells SI
Clin Cancer Res 2015 Apr 15;21(8):1962-72. Epub 2015 Jan 21 doi: 10.1158/1078-0432.CCR-14-2616. [Epub ahead of print] PMID: 25609062Free PMC Article
Dragana V, Sandra P, Emilija L, Miloš K, Andreja L, Ivana J, Dragan M, Ankica J, Zeljko Z, Marija GŠ, Sanja C, Gordana J
Indian J Pediatr 2014 Mar;81(3):260-5. Epub 2013 Dec 10 doi: 10.1007/s12098-013-1284-4. [Epub ahead of print] PMID: 24317781

Recent systematic reviews

Knies K, Schuster B, Ameziane N, Rooimans M, Bettecken T, de Winter J, Schindler D
PLoS One 2012;7(12):e52648. Epub 2012 Dec 20 doi: 10.1371/journal.pone.0052648. PMID: 23285130Free PMC Article

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