Article
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
Clinical genetics - 1 Aug 2015
Fedick A M, Shi L, Jalas C, Treff N R, Ekstein J, Kornreich R, Edelmann L, Mehta L, Savage S A
Abstract excerpt
Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by cerebellar hypoplasia, microcephaly, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC. Germline mutations in the RTEL1 gene have recently been identified as causative of HH. In this study, the carrier frequency for five RTEL1 mutations that occurred in...
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