Article
[Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene--Case Report].
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti - 1 Jan 2016
Puchmajerová A, Švojgr K, Novotná D, Macháčková E, Sumerauer D, Smíšek P, Kodet R, Kynčl M, Křepelová A, Foretová L
Abstract excerpt
Fanconi anemia is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as short stature, microcephaly, skeletal abnormalities, abnormal skin pigmentations, developmental delay and congenital heart, kidney anomalies etc. Pancytopenia leading to bone marrow failure occurs in the first decade. Patients with Fanconi anemia have a high risk of...
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