Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations.
Basel-Vanagaite
Lina
L
Dokal
Inderjeet
I
Tamary
Hannah
H
Avigdor
Abraham
A
Garty
Ben Zion
BZ
Volkov
Alexander
A
Vulliamy
Tom
T
D000293:Adolescent; D000328:Adult; D020132:Anticipation, Genetic; D019871:Dyskeratosis Congenita / Q000175:diagnosis* / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D007493:Iraq; D007585:Jews; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D019098:Telomerase / Q000235:genetics*; D013921:Thrombocytopenia / Q000175:diagnosis / Q000235:genetics
D019098:Telomerase