Article
Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.
Human mutation - 1 Nov 2013
Alder Jonathan K, Parry Erin M, Yegnasubramanian Srinivasan, Wagner Christa L, Lieblich Lawrence M, Auerbach Robert, Auerbach Arleen D, Wheelan Sarah J, Armanios Mary
Abstract excerpt
Dyskeratosis congenita (DC) is a telomere-mediated syndrome defined by mucocutaneous features. The X-linked mode of inheritance accounts for half the cases, and is thought to predominantly manifest in childhood as bone marrow failure. We identified two male probands who presented in the fifth decade with idiopathic pulmonary fibrosis and cancer. Their pedigrees displayed consecutively affected generations. Five...
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