Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations

Haematologica

Volumn 93, Issue 6, 2008, Pages 943-944

  Basel Vanagaite, Lina ^a,b,e   Dokal, Inderjeet ^c   Tamary, Hannah ^a,b   Avigdor, Abraham ^d   Garty, Ben Zion ^a,c   Volkov, Alexander ^d   Vulliamy, Tom ^c  

^a SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^d SHEBA MEDICAL CENTER   (Israel)

^e RABIN MEDICAL CENTER   (Israel)

Author keywords

Anticipation; Cardiac fibrosis; Dyskeratosis congenita; Telomere shortening; TERT

Indexed keywords

TELOMERASE REVERSE TRANSCRIPTASE;

ANAMNESIS; AUTOSOMAL DOMINANT DISORDER; CLINICAL FEATURE; COHORT ANALYSIS; DEATH; DISEASE SEVERITY; DYSKERATOSIS; DYSKERATOSIS CONGENITA; ECHOCARDIOGRAPHY; ERYTHROCYTE COUNT; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; IRAQ; LETTER; LEUKOCYTE COUNT; PATHOGENESIS; PHENOTYPE; REAL TIME POLYMERASE CHAIN REACTION; SPLENOMEGALY; STATISTICAL SIGNIFICANCE;

ADOLESCENT; ADULT; ANTICIPATION, GENETIC; DYSKERATOSIS CONGENITA; FAMILY HEALTH; FEMALE; HUMANS; IRAQ; JEWS; MALE; MUTATION; PEDIGREE; PHENOTYPE; TELOMERASE; THROMBOCYTOPENIA;

EID: 44949143804     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.12317     Document Type: Letter

References (12)

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