Article
Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.
American journal of hematology - 1 Dec 2016
Xu Jialin, Khincha Payal P, Giri Neelam, Alter Blanche P, Savage Sharon A, Wong Judy M Y
Abstract excerpt
Dyskeratosis congenita (DC) is an inherited bone marrow failure and cancer susceptibility syndrome caused by germline mutations in telomere biology genes. Germline mutations in DKC1, which encodes the protein dyskerin, cause X-linked recessive DC. Because of skewed X-chromosome inactivation, female DKC1 mutation carriers do not typically develop clinical features of DC. This study evaluated female DKC1 mutation...
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