Article
Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders.
Blood - 29 Jan 2015
Balakumaran Arun, Mishra Prasun J, Pawelczyk Edyta, Yoshizawa Sayuri, Sworder Brian J, Cherman Natasha, Kuznetsov Sergei A, Bianco Paolo, Giri Neelam, Savage Sharon A, Merlino Glenn, Dumitriu Bogdan, Dunbar Cynthia E, Young Neal S, Alter Blanche P, Robey Pamela G
Abstract excerpt
Dyskeratosis congenita (DC) is an inherited multisystem disorder, characterized by oral leukoplakia, nail dystrophy, and abnormal skin pigmentation, as well as high rates of bone marrow (BM) failure, solid tumors, and other medical problems such as osteopenia. DC and telomere biology disorders (collectively referred to as TBD here) are caused by germline mutations in telomere biology genes leading to very short...
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