Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF

Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF

Abstract Background Fanconi anemia (FA) is an inherited genomic instability disorder with congenital and developmental abnormalities, bone marrow failure and predisposition to cancer early in life, and cellular sensitivity to DNA interstrand crosslinks. Case presentation A fifty-one-year old female...

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Bibliographic Details
Main Authors: Isabell Popp, Maqsood Punekar, Nick Telford, Stavros Stivaros, Kate Chandler, Meenakshi Minnis, Anna Castleton, Claire Higham, Louise Hopewell, D. Gareth Evans, Anja Raams, Arjan F. Theil, Stefan Meyer, Detlev Schindler
Format: Article
Language:English
Published: BMC 2018-01-01
Series:BMC Medical Genetics
Subjects:
Fanconi anemia
UV sensitivity
XPF
ERCC4
FANCQ
DNA repair
Online Access:http://link.springer.com/article/10.1186/s12881-018-0520-1

Internet

http://link.springer.com/article/10.1186/s12881-018-0520-1

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