Format

Send to:

Choose Destination

Links from PubMed

Diamond-Blackfan anemia(DBA)

MedGen UID:
266045
Concept ID:
C1260899
Disease or Syndrome
Synonyms: Aase syndrome; Aase-Smith syndrome II; Anemia congenital erythroid hypoplastic; ANEMIA, CONGENITAL HYPOPLASTIC, OF BLACKFAN AND DIAMOND; Aregenerative anemia chronic congenital; Blackfan Diamond syndrome; Congenital hypoplastic anemia; DBA; Erythrogenesis imperfecta; Red cell aplasia, pure hereditary
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Chronic constitutional pure red cell aplasia (88854002); Diamond-Blackfan anemia (88854002); Chronic constitutional pure red cell anemia (88854002); Congenital pure red cell aplasia (234371002); Congenital red cell aplasia (88854002); Diamond-Blackfan syndrome (88854002)
 
Related genes: RPS26, RPS24, RPS19, RPS17, RPS10, RPS7, RPL35A, RPL11, RPL5
OMIM® Phenotypic series: PS105650
HPO: HP:0004810
Orphanet: ORPHA124

Definition

Diamond-Blackfan anemia (DBA) in its classic form is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50% of affected individuals, and growth retardation in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia, no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma. [from GTR]

Additional descriptions

From GeneReviews
Diamond-Blackfan anemia (DBA) in its classic form is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50% of affected individuals, and growth retardation in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia, no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.  https://www.ncbi.nlm.nih.gov/books/NBK7047
From GHR
Diamond-Blackfan anemia is a disorder of the bone marrow. The major function of bone marrow is to produce new blood cells. In Diamond-Blackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells, which carry oxygen to the body's tissues. The resulting shortage of red blood cells (anemia) usually becomes apparent during the first year of life. Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor).People with Diamond-Blackfan anemia have an increased risk of several serious complications related to their malfunctioning bone marrow. Specifically, they have a higher-than-average chance of developing myelodysplastic syndrome (MDS), which is a disorder in which immature blood cells fail to develop normally. Affected individuals also have an increased risk of developing certain cancers, including a cancer of blood-forming tissue known as acute myeloid leukemia (AML) and a type of bone cancer called osteosarcoma.Approximately half of individuals with Diamond-Blackfan anemia have physical abnormalities. They may have an unusually small head size (microcephaly) and a low frontal hairline, along with distinctive facial features such as wide-set eyes (hypertelorism); droopy eyelids (ptosis); a broad, flat bridge of the nose; small, low-set ears; and a small lower jaw (micrognathia). Affected individuals may also have an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip). They may have a short, webbed neck; shoulder blades which are smaller and higher than usual; and abnormalities of their hands, most commonly malformed or absent thumbs. About one-third of affected individuals have slow growth leading to short stature.Other features of Diamond-Blackfan anemia may include eye problems such as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), or eyes that do not look in the same direction (strabismus). Affected individuals may also have kidney abnormalities; structural defects of the heart; and, in males, the opening of the urethra on the underside of the penis (hypospadias).The severity of Diamond-Blackfan anemia may vary, even within the same family. Increasingly, individuals with "non-classical" Diamond-Blackfan anemia have been identified. This form of the disorder typically has less severe symptoms that may include mild anemia beginning in adulthood.  https://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia

Clinical features

Congenital dyserythropoietic anemia
MedGen UID:
8064
Concept ID:
C0002876
Disease or Syndrome
Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This disorder is one of many types of anemia, which is a condition characterized by a shortage of red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and other complications.Researchers have identified three major types of CDA: type I, type II, and type III. The types have different genetic causes and different but overlapping patterns of signs and symptoms.CDA type I is characterized by moderate to severe anemia. It is usually diagnosed in childhood or adolescence, although in some cases, the condition can be detected before birth. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly). This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type I are born with skeletal abnormalities, most often involving the fingers and/or toes.The anemia associated with CDA type II can range from mild to severe, and most affected individuals have jaundice, hepatosplenomegaly, and the formation of hard deposits in the gallbladder called gallstones. This form of the disorder is usually diagnosed in adolescence or early adulthood. An abnormal buildup of iron typically occurs after age 20, leading to complications including heart disease, diabetes, and cirrhosis.The signs and symptoms of CDA type III tend to be milder than those of the other types. Most affected individuals do not have hepatosplenomegaly, and iron does not build up in tissues and organs. In adulthood, abnormalities of a specialized tissue at the back of the eye (the retina) can cause vision impairment. Some people with CDA type III also have a blood disorder known as monoclonal gammopathy, which can lead to a cancer of white blood cells (multiple myeloma).Several other variants of CDA have been described, although they appear to be rare and not much is known about them. Once researchers discover the genetic causes of these variants, some of them may be grouped with the three major types of CDA.
Coarctation of aorta
MedGen UID:
1617
Concept ID:
C0003492
Congenital Abnormality
A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion.
Colon cancer
MedGen UID:
2839
Concept ID:
C0007102
Neoplastic Process
A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.
Heart failure
MedGen UID:
6749
Concept ID:
C0018801
Disease or Syndrome
A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
A congenital abnormality of the jaws (particularly the mandible) in which they are unusually small. This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes.
Osteosarcoma
MedGen UID:
10501
Concept ID:
C0029463
Neoplastic Process
A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
Pallor
MedGen UID:
10547
Concept ID:
C0030232
Finding
A clinical manifestation consisting of an unnatural paleness of the skin.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood.
Webbed neck
MedGen UID:
113154
Concept ID:
C0221217
Congenital Abnormality
A congenital, usually bilateral, thick web-like fold of skin that extends from the acromion to the mastoid process. This deformity is associated with Turner Syndrome and Noonan Syndrome.
Parietal foramina
MedGen UID:
526951
Concept ID:
C0222706
Body Space or Junction
The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.
Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Finding
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Premature birth
MedGen UID:
535197
Concept ID:
C0233315
Finding
The birth of a baby of less than 37 weeks of gestational age.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Triphalangeal thumb
MedGen UID:
66029
Concept ID:
C0241397
Congenital Abnormality
A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.
Partial duplication of thumb phalanx
MedGen UID:
82716
Concept ID:
C0265608
Congenital Abnormality
A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
Delayed cranial suture closure
MedGen UID:
75805
Concept ID:
C0277828
Finding
Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Narrow chest
MedGen UID:
96528
Concept ID:
C0426790
Finding
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
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.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Hypoplasia of the radius
MedGen UID:
672334
Concept ID:
C0685381
Congenital Abnormality
A congenital deformity characterized by the presence of hypoplastic radius. It is usually associated with club hand deformity.
Thrombocytosis
MedGen UID:
163397
Concept ID:
C0836924
Disease or Syndrome
A hematology test result that indicates the presence of higher than normal platelet counts in the peripheral blood.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
A decrease in the number of neutrophils in the peripheral blood.
Reticulocytopenia
MedGen UID:
167812
Concept ID:
C0858867
Finding
A reduced number of reticulocytes in the peripheral blood.
Intrauterine growth retardation
MedGen UID:
473406
Concept ID:
C1386048
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
11 pairs of ribs
MedGen UID:
326950
Concept ID:
C1839731
Finding
Presence of only 11 pairs of ribs.
Depressed nasal ridge
MedGen UID:
334631
Concept ID:
C1842876
Finding
Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.
Myelodysplasia
MedGen UID:
343695
Concept ID:
C1851971
Finding
Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.
Hypoplastic ilia
MedGen UID:
348814
Concept ID:
C1861218
Finding
Underdevelopment of the ilium.
Bifid thoracic vertebrae
MedGen UID:
442737
Concept ID:
C2751478
Finding
Hypoplastic sacral vertebrae
MedGen UID:
414388
Concept ID:
C2751479
Finding
Hypoplastic coccygeal vertebrae
MedGen UID:
414028
Concept ID:
C2751480
Finding
Cleft secondary palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
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.
Retrognathia
MedGen UID:
488375
Concept ID:
C3494422
Finding
A physical misalignment of the upper (maxilla) and lower (mandibular) jaw bones in which either or both recede relative to the frontal plane of the forehead.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Cleft upper lip
MedGen UID:
892653
Concept ID:
C4020893
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Elevated red cell adenosine deaminase activity
MedGen UID:
868156
Concept ID:
C4022547
Finding
Increase in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.

Professional guidelines

PubMed

Vlachos A, Dahl N, Dianzani I, Lipton JM
Eur J Hum Genet 2011 May;19(5) Epub 2011 Jan 19 doi: 10.1038/ejhg.2010.247. PMID: 21248735Free PMC Article

Recent clinical studies

Etiology

Zhang JY, Jia M, Zhao HZ, Luo ZB, Xu WQ, Shen HP, Tang YM
Blood Cells Mol Dis 2016 Nov;62:1-5. Epub 2016 Aug 31 doi: 10.1016/j.bcmd.2016.08.003. PMID: 27732904
Wan Y, Chen X, An W, Ruan M, Zhang J, Chang L, Zhang R, Zhu S, Zhang Y, Yang W, Guo Y, Yuan W, Zou Y, Chen Y, Zhu X
Int J Hematol 2016 Oct;104(4):430-9. Epub 2016 Jun 21 doi: 10.1007/s12185-016-2044-9. PMID: 27329125
Matsuda I, Tsuchida YA, Toyoshima F, Tozawa K, Ikehara H, Ohda Y, Hori K, Ohtsuka Y, Watari J, Miwa H, Hirota S
Int J Clin Exp Pathol 2015;8(5):5938-43. Epub 2015 May 1 PMID: 26191323Free PMC Article
Ear J, Huang H, Wilson T, Tehrani Z, Lindgren A, Sung V, Laadem A, Daniel TO, Chopra R, Lin S
Blood 2015 Aug 13;126(7):880-90. Epub 2015 Jun 24 doi: 10.1182/blood-2015-01-622522. PMID: 26109203
Howell JC, Joshi SA, Hornung L, Khoury J, Harris RE, Rose SR
Pediatr Blood Cancer 2015 Mar;62(3):402-8. Epub 2014 Dec 9 doi: 10.1002/pbc.25341. PMID: 25492299

Diagnosis

Ichimura T, Yoshida K, Okuno Y, Yujiri T, Nagai K, Nishi M, Shiraishi Y, Ueno H, Toki T, Chiba K, Tanaka H, Muramatsu H, Hara T, Kanno H, Kojima S, Miyano S, Ito E, Ogawa S, Ohga S
Int J Hematol 2017 Apr;105(4):515-520. Epub 2016 Nov 23 doi: 10.1007/s12185-016-2151-7. PMID: 27882484
Ozono S, Mitsuo M, Noguchi M, Nakagawa S, Ueda K, Inada H, Ohga S, Ito E
Pediatr Int 2016 Sep;58(9):930-3. Epub 2016 Sep 6 doi: 10.1111/ped.13018. PMID: 27601194
Papneja K, Bhatt MD, Kirby-Allen M, Arora S, Wiernikowski JT, Athale UH
Pediatr Blood Cancer 2016 Aug;63(8):1480-3. Epub 2016 Apr 15 doi: 10.1002/pbc.25995. PMID: 27082377
Gomes RF, Munerato MC
Clin Med Res 2016 Jun;14(2):97-102. Epub 2016 Feb 10 doi: 10.3121/cmr.2015.1305. PMID: 26864506Free PMC Article
Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX; UW Center for Mendelian Genomics., Pilchman L, Sahraoui R, Stabley DL, Sol-Church K
Am J Med Genet A 2014 Sep;164A(9):2240-9. Epub 2014 Jun 18 doi: 10.1002/ajmg.a.36633. PMID: 24942156Free PMC Article

Therapy

Papneja K, Bhatt MD, Kirby-Allen M, Arora S, Wiernikowski JT, Athale UH
Pediatr Blood Cancer 2016 Aug;63(8):1480-3. Epub 2016 Apr 15 doi: 10.1002/pbc.25995. PMID: 27082377
Gomes RF, Munerato MC
Clin Med Res 2016 Jun;14(2):97-102. Epub 2016 Feb 10 doi: 10.3121/cmr.2015.1305. PMID: 26864506Free PMC Article
Ear J, Huang H, Wilson T, Tehrani Z, Lindgren A, Sung V, Laadem A, Daniel TO, Chopra R, Lin S
Blood 2015 Aug 13;126(7):880-90. Epub 2015 Jun 24 doi: 10.1182/blood-2015-01-622522. PMID: 26109203
Howell JC, Joshi SA, Hornung L, Khoury J, Harris RE, Rose SR
Pediatr Blood Cancer 2015 Mar;62(3):402-8. Epub 2014 Dec 9 doi: 10.1002/pbc.25341. PMID: 25492299
Jaako P, Debnath S, Olsson K, Modlich U, Rothe M, Schambach A, Flygare J, Karlsson S
Haematologica 2014 Dec;99(12):1792-8. Epub 2014 Sep 12 doi: 10.3324/haematol.2014.111195. PMID: 25216681Free PMC Article

Prognosis

Howell JC, Joshi SA, Hornung L, Khoury J, Harris RE, Rose SR
Pediatr Blood Cancer 2015 Mar;62(3):402-8. Epub 2014 Dec 9 doi: 10.1002/pbc.25341. PMID: 25492299
Delaporta P, Sofocleous C, Stiakaki E, Polychronopoulou S, Economou M, Kossiva L, Kostaridou S, Kattamis A
Pediatr Blood Cancer 2014 Dec;61(12):2249-55. Epub 2014 Aug 17 doi: 10.1002/pbc.25183. PMID: 25132370
Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX; UW Center for Mendelian Genomics., Pilchman L, Sahraoui R, Stabley DL, Sol-Church K
Am J Med Genet A 2014 Sep;164A(9):2240-9. Epub 2014 Jun 18 doi: 10.1002/ajmg.a.36633. PMID: 24942156Free PMC Article
Quarello P, Garelli E, Brusco A, Carando A, Mancini C, Pappi P, Vinti L, Svahn J, Dianzani I, Ramenghi U
Haematologica 2012 Dec;97(12):1813-7. Epub 2012 Jun 11 doi: 10.3324/haematol.2012.062281. PMID: 22689679Free PMC Article
Pospisilova D, Cmejlova J, Ludikova B, Stary J, Cerna Z, Hak J, Timr P, Petrtylova K, Blatny J, Vokurka S, Cmejla R
Blood Cells Mol Dis 2012 Apr 15;48(4):209-18. Epub 2012 Mar 3 doi: 10.1016/j.bcmd.2012.02.002. PMID: 22381658

Clinical prediction guides

Wan Y, Chen X, An W, Ruan M, Zhang J, Chang L, Zhang R, Zhu S, Zhang Y, Yang W, Guo Y, Yuan W, Zou Y, Chen Y, Zhu X
Int J Hematol 2016 Oct;104(4):430-9. Epub 2016 Jun 21 doi: 10.1007/s12185-016-2044-9. PMID: 27329125
Matsuda I, Tsuchida YA, Toyoshima F, Tozawa K, Ikehara H, Ohda Y, Hori K, Ohtsuka Y, Watari J, Miwa H, Hirota S
Int J Clin Exp Pathol 2015;8(5):5938-43. Epub 2015 May 1 PMID: 26191323Free PMC Article
Howell JC, Joshi SA, Hornung L, Khoury J, Harris RE, Rose SR
Pediatr Blood Cancer 2015 Mar;62(3):402-8. Epub 2014 Dec 9 doi: 10.1002/pbc.25341. PMID: 25492299
Delaporta P, Sofocleous C, Stiakaki E, Polychronopoulou S, Economou M, Kossiva L, Kostaridou S, Kattamis A
Pediatr Blood Cancer 2014 Dec;61(12):2249-55. Epub 2014 Aug 17 doi: 10.1002/pbc.25183. PMID: 25132370
Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX; UW Center for Mendelian Genomics., Pilchman L, Sahraoui R, Stabley DL, Sol-Church K
Am J Med Genet A 2014 Sep;164A(9):2240-9. Epub 2014 Jun 18 doi: 10.1002/ajmg.a.36633. PMID: 24942156Free PMC Article

Recent systematic reviews

Pennell DJ, Udelson JE, Arai AE, Bozkurt B, Cohen AR, Galanello R, Hoffman TM, Kiernan MS, Lerakis S, Piga A, Porter JB, Walker JM, Wood J; American Heart Association Committee on Heart Failure and Transplantation of the Council on Clinical Cardiology and Council on Cardiovascular Radiology and Imaging.
Circulation 2013 Jul 16;128(3):281-308. Epub 2013 Jun 17 doi: 10.1161/CIR.0b013e31829b2be6. PMID: 23775258
Tsangaris E, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Odame I, Canning P, Allen C, Carcao M, Beyene J, Roifman CM, Dror Y
J Med Genet 2011 Sep;48(9):618-28. Epub 2011 Jun 9 doi: 10.1136/jmg.2011.089821. PMID: 21659346
Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM; Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference.
Br J Haematol 2008 Sep;142(6):859-76. Epub 2008 Jul 30 doi: 10.1111/j.1365-2141.2008.07269.x. PMID: 18671700Free PMC Article
Lieberman L, Dror Y
Curr Opin Pediatr 2006 Feb;18(1):15-21. doi: 10.1097/01.mop.0000192520.48411.fa. PMID: 16470156

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center