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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Autores principales:	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
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	BMC 2018-01-01
Colección:	BMC Medical Genetics
Materias:	Fanconi anemia UV sensitivity XPF ERCC4 FANCQ DNA repair
Acceso en línea:	http://link.springer.com/article/10.1186/s12881-018-0520-1
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