The genetics and clinical manifestations of telomere biology disorders

Genetics in Medicine

Volumn 12, Issue 12, 2010, Pages 753-764

  Savage, Sharon A ^a   Bertuch, Alison A ^b  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

bone marrow failure; dyskeratosis congenita; idiopathic pulmonary fibrosis; telomere; telomere biology disorder

Indexed keywords

ANDROGEN; BETA CATENIN; CHLORAMPHENICOL; DNA; ERYTHROPOIETIN; GRANULOCYTE COLONY STIMULATING FACTOR; SMALL NUCLEOLAR RNA; TELOMERASE; TELOMERASE RNA COMPONENT; TELOMERIC REPEAT CONTAINING RNA; UNCLASSIFIED DRUG; UNTRANSLATED RNA;

ACUTE GRANULOCYTIC LEUKEMIA; APLASTIC ANEMIA; AUTOSOMAL DOMINANT DISORDER; B CELL LYMPHOMA; BONE MARROW DEPRESSION; BONE MARROW SUPPRESSION; CANCER RISK; CARDIOVASCULAR DISEASE; CLINICAL FEATURE; DIABETES MELLITUS; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DISEASE COURSE; DYSKERATOSIS CONGENITA; FIBROBLAST; FLOW CYTOMETRY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENETIC DISORDER; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMATOPOIETIC SYSTEM TUMOR; HUMAN; HYPERPIGMENTATION; HYPOPIGMENTATION; IDIOPATHIC DISEASE; IMMUNOSUPPRESSIVE TREATMENT; LARGE CELL LYMPHOMA; LEUKOPLAKIA; LIFESTYLE; LIVER FIBROSIS; LUNG FIBROSIS; LYMPHOCYTE; LYMPHOCYTOMA; NAIL DYSTROPHY; OBESITY; PATIENT COUNSELING; PATIENT MONITORING; PEDIGREE ANALYSIS; PROGNOSIS; PURPURA; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SPLEEN RUPTURE; SPLENIC PELIOSIS; SQUAMOUS CELL CARCINOMA; STRESS; SYNDROME DELINEATION; TELOMERE; TELOMERE BIOLOGY DISORDER; TONGUE CANCER; X CHROMOSOME RECESSIVE DISORDER;

CHROMOSOME DISORDERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INHERITANCE PATTERNS; MUTATION; TELOMERASE; TELOMERE;

EID: 78650639126     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181f415b5     Document Type: Review

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