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

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 patient...

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Detalles Bibliográficos
Autores principales: Popp, Isabell, Punekar, Maqsood, Telford, Nick, Stivaros, Stavros, Chandler, Kate, Minnis, Meenakshi, Castleton, Anna, Higham, Claire, Hopewell, Louise, Gareth Evans, D., Raams, Anja, Theil, Arjan F., Meyer, Stefan, Schindler, Detlev
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765604/
https://www.ncbi.nlm.nih.gov/pubmed/29325523
http://dx.doi.org/10.1186/s12881-018-0520-1

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