Ataxia telangiectasia: A review

Orphanet Journal of Rare Diseases

Volumn 11, Issue 1, 2016, Pages

  Rothblum Oviatt, Cynthia ^a   Wright, Jennifer ^b   Lefton Greif, Maureen A ^b   McGrath Morrow, Sharon A ^b   Crawford, Thomas O ^b   Lederman, Howard M ^b  

^a A T Children's Project   (United States)

^b DEPARTMENT OF PATHOLOGY   (United States)

Author keywords

Cancer; Cerebellum; Dysphagia; Immunodeficiency; Neurodegeneration; Pulmonary disease; Purkinje cells

Indexed keywords

ALPHA FETOPROTEIN; ANTICONVULSIVE AGENT; ANTIPARKINSON AGENT; ATM PROTEIN; BACLOFEN; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; INSULIN; PHOSPHOTRANSFERASE; TRIHEXYPHENIDYL;

AGE DISTRIBUTION; ATAXIA; ATAXIA TELANGIECTASIA; CANCER INCIDENCE; CANCER SUSCEPTIBILITY; CHRONIC LUNG DISEASE; COPY NUMBER VARIATION; DIABETES MELLITUS; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DISEASE SEVERITY; DYSPHAGIA; ENZYME ACTIVITY; FEEDING DIFFICULTY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC SCREENING; GENOMIC INSTABILITY; GONADAL DYSGENESIS; GROWTH DISORDER; HAPLOTYPE; HUMAN; HUMORAL IMMUNE DEFICIENCY; IMMUNE RESPONSE; IMMUNOGLOBULIN DEFICIENCY; INSULIN RESISTANCE; LYMPHOCYTOPENIA; NERVE DEGENERATION; NEUROIMAGING; NEWBORN SCREENING; NONHUMAN; NUTRITIONAL DEFICIENCY; OCCUPATIONAL THERAPY; PHYSIOTHERAPY; PRENATAL DIAGNOSIS; PREVALENCE; PROTEIN BLOOD LEVEL; RADIOSENSITIVITY; REVIEW; SPEECH THERAPY; TELANGIECTASIA; VISUAL ACUITY; ANIMAL; CEREBELLUM; GENETICS; LUNG DISEASES; METABOLISM; MUTATION; PATHOLOGY; PURKINJE CELL;

ANIMALS; ATAXIA TELANGIECTASIA; CEREBELLUM; HUMANS; LUNG DISEASES; MUTATION; PURKINJE CELLS;

EID: 84996644821     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-016-0543-7     Document Type: Review

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