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

• Egile Nagusiak: Isabell Popp (Egilea), Maqsood Punekar (Egilea), Nick Telford (Egilea), Stavros Stivaros (Egilea), Kate Chandler (Egilea), Meenakshi Minnis (Egilea), Anna Castleton (Egilea), Claire Higham (Egilea), Louise Hopewell (Egilea), D. Gareth Evans (Egilea), Anja Raams (Egilea), Arjan F. Theil (Egilea), Stefan Meyer (Egilea), Detlev Schindler (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2018-01-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

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...