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Ataxia-telangiectasia syndrome(AT)

MedGen UID:
439
Concept ID:
C0004135
Disease or Syndrome
Synonyms: AT; AT, COMPLEMENTATION GROUP C; Ataxia-telangiectasia; ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A; Ataxia-telangiectasia, complementation group D; ATAXIA-TELANGIECTASIA, FRESNO VARIANT; Cerebello-oculocutaneous telangiectasia; Immunodeficiency with ataxia telangiectasia; Louis-Bar syndrome
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)
SNOMED CT: Ataxia-telangiectasia syndrome (68504005); Louis-Bar syndrome (68504005); Ataxia telangiectasia (68504005); Ataxia telangiectasia syndrome (68504005)
 
Gene (location): ATM (11q22.3)
OMIM®: 208900
Orphanet: ORPHA100

Definition

Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease (Jaspers et al., 1988). At least 4 of these (A, C, D, and E) map to chromosome 11q23 (Sanal et al., 1990) and are associated with mutations in the ATM gene. [from GTR]

Additional descriptions

From GeneReviews
Classic ataxia-telangiectasia (A-T) is characterized by progressive cerebellar ataxia beginning between ages one and four years, oculomotor apraxia, choreoathetosis, telangiectasias of the conjunctivae, immunodeficiency, frequent infections, and an increased risk for malignancy, particularly leukemia and lymphoma. Individuals with A-T are unusually sensitive to ionizing radiation. Non-classic forms of A-T have included adult-onset A-T and A-T with early-onset dystonia.  https://www.ncbi.nlm.nih.gov/books/NBK26468
From NCBI curation
Classic ataxia-telangiectasia (A-T) is characterized by progressive cerebellar ataxia beginning between ages one and four years, oculomotor apraxia, choreoathetosis, telangiectasias of the conjunctivae, immunodeficiency, frequent infections, and an increased risk for malignancy, particularly leukemia and lymphoma. Individuals with A-T are unusually sensitive to ionizing radiation. Non-classic forms of A-T have included adult-onset A-T and A-T with early-onset dystonia.
From OMIM
Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease (Jaspers et al., 1988). At least 4 of these (A, C, D, and E) map to chromosome 11q23 (Sanal et al., 1990) and are associated with mutations in the ATM gene.  http://www.omim.org/entry/208900
From GHR
Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition.Affected individuals tend to have high amounts of a protein called alpha-fetoprotein (AFP) in their blood. The level of this protein is normally increased in the bloodstream of pregnant women, but it is unknown why individuals with ataxia-telangiectasia have elevated AFP or what effects it has in these individuals.People with ataxia-telangiectasia often have a weakened immune system, and many develop chronic lung infections. They also have an increased risk of developing cancer, particularly cancer of blood-forming cells (leukemia) and cancer of immune system cells (lymphoma). Affected individuals are very sensitive to the effects of radiation exposure, including medical x-rays. The life expectancy of people with ataxia-telangiectasia varies greatly, but affected individuals typically live into early adulthood.  https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia

Clinical features

Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Female hypogonadism
MedGen UID:
75756
Concept ID:
C0271578
Disease or Syndrome
Decreased functionality of the female gonads, i.e., of the ovary.
Delayed female puberty
MedGen UID:
543451
Concept ID:
C0271618
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Hypoplasia of the thymus
MedGen UID:
146347
Concept ID:
C0685891
Congenital Abnormality
Underdevelopment of the thymus.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
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)
Conjunctival telangiectasia
MedGen UID:
66780
Concept ID:
C0239105
Disease or Syndrome
The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.
Hodgkin lymphoma
MedGen UID:
9283
Concept ID:
C0019829
Neoplastic Process
Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).
Malignant lymphoma, non-Hodgkin
MedGen UID:
6160
Concept ID:
C0024305
Neoplastic Process
A typer of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells.
Hematologic neoplasm
MedGen UID:
138213
Concept ID:
C0376545
Neoplastic Process
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
Female hypogonadism
MedGen UID:
75756
Concept ID:
C0271578
Disease or Syndrome
Decreased functionality of the female gonads, i.e., of the ovary.
Abnormal spermatogenesis
MedGen UID:
488909
Concept ID:
C0520933
Finding
Incomplete maturation or aberrant formation of the male gametes.
Conjunctival telangiectasia
MedGen UID:
66780
Concept ID:
C0239105
Disease or Syndrome
The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.
Delayed female puberty
MedGen UID:
543451
Concept ID:
C0271618
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
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 \
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Sign or Symptom
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489)
Dystonia
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Sign or Symptom
A rapid, involuntary jerk of a muscle or group of muscles.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Choreoathetosis
MedGen UID:
66712
Concept ID:
C0234967
Finding
Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
Reduced tendon reflexes
MedGen UID:
356648
Concept ID:
C1866934
Finding
Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
Hodgkin lymphoma
MedGen UID:
9283
Concept ID:
C0019829
Neoplastic Process
Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).
Malignant lymphoma, non-Hodgkin
MedGen UID:
6160
Concept ID:
C0024305
Neoplastic Process
A typer of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells.
Lymphopenia
MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
A reduced number of lymphocytes in the blood.
Selective IgA deficiency
MedGen UID:
57934
Concept ID:
C0162538
Disease or Syndrome
Immunoglobulin (Ig) A deficiency (IGAD) is characterized by decreased or absent levels of serum IgA in the presence of normal serum levels of IgG and IgM in a patient older than 4 years of age in whom other causes of hypogammaglobulinemia have been excluded. IgA in the dimeric form is the dominant immunoglobulin in luminal secretions, such as saliva, tears, bronchial secretions, nasal mucosal secretions, and mucous secretions of the small intestine. Individuals with selective IgA deficiency may be asymptomatic or have recurrent sinopulmonary and gastrointestinal infections, allergic disorders, and autoimmune disorders. The diagnosis of IgA deficiency depends on the measurement of monomeric IgA concentrations in serum; thus individuals with IgA deficiency may have IgA in mucosal systems, which may offer some protection (review by Yel, 2010). Genetic Heterogeneity of IgA Deficiency The IGAD1 locus maps to chromosome 6p21. See also IGAD2 (609529), which is caused by mutation in the TNFRSF13B gene (604907) on chromosome 17p11.
Hematologic neoplasm
MedGen UID:
138213
Concept ID:
C0376545
Neoplastic Process
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
Decreased number of CD4+ T cells
MedGen UID:
333292
Concept ID:
C1839304
Finding
A decreased count of circulating CD4-positive helper T cells.
Defective B cell differentiation
MedGen UID:
347920
Concept ID:
C1859624
Finding
Abnormality of B cell number
MedGen UID:
866853
Concept ID:
C4021208
Anatomical Abnormality
A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.
Immunoglobulin IgG2 deficiency
MedGen UID:
867187
Concept ID:
C4021545
Finding
A reduction in immunoglobulin levels of the IgG2 subclass.
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Recurrent bronchitis
MedGen UID:
148159
Concept ID:
C0741796
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
Female hypogonadism
MedGen UID:
75756
Concept ID:
C0271578
Disease or Syndrome
Decreased functionality of the female gonads, i.e., of the ovary.
Lymphopenia
MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
A reduced number of lymphocytes in the blood.
Selective IgA deficiency
MedGen UID:
57934
Concept ID:
C0162538
Disease or Syndrome
Immunoglobulin (Ig) A deficiency (IGAD) is characterized by decreased or absent levels of serum IgA in the presence of normal serum levels of IgG and IgM in a patient older than 4 years of age in whom other causes of hypogammaglobulinemia have been excluded. IgA in the dimeric form is the dominant immunoglobulin in luminal secretions, such as saliva, tears, bronchial secretions, nasal mucosal secretions, and mucous secretions of the small intestine. Individuals with selective IgA deficiency may be asymptomatic or have recurrent sinopulmonary and gastrointestinal infections, allergic disorders, and autoimmune disorders. The diagnosis of IgA deficiency depends on the measurement of monomeric IgA concentrations in serum; thus individuals with IgA deficiency may have IgA in mucosal systems, which may offer some protection (review by Yel, 2010). Genetic Heterogeneity of IgA Deficiency The IGAD1 locus maps to chromosome 6p21. See also IGAD2 (609529), which is caused by mutation in the TNFRSF13B gene (604907) on chromosome 17p11.
Hematologic neoplasm
MedGen UID:
138213
Concept ID:
C0376545
Neoplastic Process
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
Hypoplasia of the thymus
MedGen UID:
146347
Concept ID:
C0685891
Congenital Abnormality
Underdevelopment of the thymus.
Recurrent bronchitis
MedGen UID:
148159
Concept ID:
C0741796
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
Decreased number of CD4+ T cells
MedGen UID:
333292
Concept ID:
C1839304
Finding
A decreased count of circulating CD4-positive helper T cells.
Defective B cell differentiation
MedGen UID:
347920
Concept ID:
C1859624
Finding
Abnormality of B cell number
MedGen UID:
866853
Concept ID:
C4021208
Anatomical Abnormality
A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.
Immunoglobulin IgG2 deficiency
MedGen UID:
867187
Concept ID:
C4021545
Finding
A reduction in immunoglobulin levels of the IgG2 subclass.
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Selective IgA deficiency
MedGen UID:
57934
Concept ID:
C0162538
Disease or Syndrome
Immunoglobulin (Ig) A deficiency (IGAD) is characterized by decreased or absent levels of serum IgA in the presence of normal serum levels of IgG and IgM in a patient older than 4 years of age in whom other causes of hypogammaglobulinemia have been excluded. IgA in the dimeric form is the dominant immunoglobulin in luminal secretions, such as saliva, tears, bronchial secretions, nasal mucosal secretions, and mucous secretions of the small intestine. Individuals with selective IgA deficiency may be asymptomatic or have recurrent sinopulmonary and gastrointestinal infections, allergic disorders, and autoimmune disorders. The diagnosis of IgA deficiency depends on the measurement of monomeric IgA concentrations in serum; thus individuals with IgA deficiency may have IgA in mucosal systems, which may offer some protection (review by Yel, 2010). Genetic Heterogeneity of IgA Deficiency The IGAD1 locus maps to chromosome 6p21. See also IGAD2 (609529), which is caused by mutation in the TNFRSF13B gene (604907) on chromosome 17p11.
Glucose intolerance
MedGen UID:
75760
Concept ID:
C0271650
Disease or Syndrome
A pathological state in which BLOOD GLUCOSE level is less than approximately 140 mg/100 ml of PLASMA at fasting, and above approximately 200 mg/100 ml plasma at 30-, 60-, or 90-minute during a GLUCOSE TOLERANCE TEST. This condition is seen frequently in DIABETES MELLITUS, but also occurs with other diseases and MALNUTRITION.
Elevated alpha-fetoprotein
MedGen UID:
892411
Concept ID:
C0476489
Finding
An increased concentration of alpha-fetoprotein.
Defective B cell differentiation
MedGen UID:
347920
Concept ID:
C1859624
Finding
Immunoglobulin IgG2 deficiency
MedGen UID:
867187
Concept ID:
C4021545
Finding
A reduction in immunoglobulin levels of the IgG2 subclass.
Sinusitis
MedGen UID:
14608
Concept ID:
C0030469
Disease or Syndrome
A non-neoplastic or neoplastic disorder affecting the paranasal sinuses. Examples include inflammation, polyps, and cancer.
Sinusitis
MedGen UID:
14608
Concept ID:
C0030469
Disease or Syndrome
A non-neoplastic or neoplastic disorder affecting the paranasal sinuses. Examples include inflammation, polyps, and cancer.
Conjunctival telangiectasia
MedGen UID:
66780
Concept ID:
C0239105
Disease or Syndrome
The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.
Recurrent bronchitis
MedGen UID:
148159
Concept ID:
C0741796
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
Abnormality of the hair
MedGen UID:
56381
Concept ID:
C0157733
Finding
An abnormality of the hair.
Cafe-au-lait spot
MedGen UID:
113157
Concept ID:
C0221263
Finding
A light brown, sharply demarcated skin patch. It is a manifestation of neurofibromatosis type 1 and McCune-Albright syndrome.
Conjunctival telangiectasia
MedGen UID:
66780
Concept ID:
C0239105
Disease or Syndrome
The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Female hypogonadism
MedGen UID:
75756
Concept ID:
C0271578
Disease or Syndrome
Decreased functionality of the female gonads, i.e., of the ovary.
Delayed female puberty
MedGen UID:
543451
Concept ID:
C0271618
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Hypoplasia of the thymus
MedGen UID:
146347
Concept ID:
C0685891
Congenital Abnormality
Underdevelopment of the thymus.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
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)
Conjunctival telangiectasia
MedGen UID:
66780
Concept ID:
C0239105
Disease or Syndrome
The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.

Professional guidelines

PubMed

van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Dürr A, Giunti P, Klockgether T, Mariotti C, Pandolfo M, Riess O
Eur J Neurol 2014 Apr;21(4):552-62. Epub 2014 Jan 13 doi: 10.1111/ene.12341. PMID: 24418350
Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF; EFNS.
Eur J Neurol 2010 Feb;17(2):179-88. Epub 2009 Dec 28 doi: 10.1111/j.1468-1331.2009.02873.x. PMID: 20050888

Recent clinical studies

Etiology

Choi M, Kipps T, Kurzrock R
Mol Cancer Ther 2016 Aug;15(8):1781-91. Epub 2016 Jul 13 doi: 10.1158/1535-7163.MCT-15-0945. PMID: 27413114
Marabelli M, Cheng SC, Parmigiani G
Genet Epidemiol 2016 Jul;40(5):425-31. Epub 2016 Apr 25 doi: 10.1002/gepi.21971. PMID: 27112364
Greenberger S, Berkun Y, Ben-Zeev B, Levi YB, Barziliai A, Nissenkorn A
J Am Acad Dermatol 2013 Jun;68(6):932-6. Epub 2013 Jan 27 doi: 10.1016/j.jaad.2012.12.950. PMID: 23360865
Llerena J Jr, Murer-Orlando M, McGuire M, Zahed L, Sheridan RJ, Berry AC, Bobrow M
J Med Genet 1989 Mar;26(3):174-8. PMID: 2468772Free PMC Article

Diagnosis

Greenberger S, Berkun Y, Ben-Zeev B, Levi YB, Barziliai A, Nissenkorn A
J Am Acad Dermatol 2013 Jun;68(6):932-6. Epub 2013 Jan 27 doi: 10.1016/j.jaad.2012.12.950. PMID: 23360865
Otabor IA, Abdessalam SF, Erdman SH, Hammond S, Besner GE
World J Surg Oncol 2009 Mar 12;7:29. doi: 10.1186/1477-7819-7-29. PMID: 19284625Free PMC Article
Forte WC, Menezes MC, Dionigi PC, Bastos CL
Allergol Immunopathol (Madr) 2005 Jul-Aug;33(4):199-203. PMID: 16045857
Llerena J Jr, Murer-Orlando M, McGuire M, Zahed L, Sheridan RJ, Berry AC, Bobrow M
J Med Genet 1989 Mar;26(3):174-8. PMID: 2468772Free PMC Article
McKinnon PJ, Burgoyne LA
Eur J Cell Biol 1985 Nov;39(1):161-6. PMID: 3910438

Therapy

Choi M, Kipps T, Kurzrock R
Mol Cancer Ther 2016 Aug;15(8):1781-91. Epub 2016 Jul 13 doi: 10.1158/1535-7163.MCT-15-0945. PMID: 27413114

Prognosis

Choi M, Kipps T, Kurzrock R
Mol Cancer Ther 2016 Aug;15(8):1781-91. Epub 2016 Jul 13 doi: 10.1158/1535-7163.MCT-15-0945. PMID: 27413114
Forte WC, Menezes MC, Dionigi PC, Bastos CL
Allergol Immunopathol (Madr) 2005 Jul-Aug;33(4):199-203. PMID: 16045857

Clinical prediction guides

Greenberger S, Berkun Y, Ben-Zeev B, Levi YB, Barziliai A, Nissenkorn A
J Am Acad Dermatol 2013 Jun;68(6):932-6. Epub 2013 Jan 27 doi: 10.1016/j.jaad.2012.12.950. PMID: 23360865
Forte WC, Menezes MC, Dionigi PC, Bastos CL
Allergol Immunopathol (Madr) 2005 Jul-Aug;33(4):199-203. PMID: 16045857
McKinnon PJ, Burgoyne LA
Eur J Cell Biol 1985 Nov;39(1):161-6. PMID: 3910438

Recent systematic reviews

Marabelli M, Cheng SC, Parmigiani G
Genet Epidemiol 2016 Jul;40(5):425-31. Epub 2016 Apr 25 doi: 10.1002/gepi.21971. PMID: 27112364

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