Ontology highlight
ABSTRACT:
SUBMITTER: Sharma A
PROVIDER: S-EPMC4205177 | biostudies-literature | 2014 Dec
REPOSITORIES: biostudies-literature
Sharma Akshay A Myers Kasiani K Ye Zhan Z D'Orazio John J
Pediatric blood & cancer 20140725 12
Two siblings presenting with exudative retinopathy, thrombocytopenia, and macrocytosis were found to have markedly shortened telomeres and a previously unreported inherited mutation in TERT, c.2603A>G. Revesz syndrome, a subtype of dyskeratosis congenita (DC) caused by TINF2 mutation, combines marrow failure with exudative retinopathy, intracranial calcifications, and neurocognitive impairment. As our patients manifested neither intracranial calcification nor significant neurocognitive impairmen ...[more]