Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children.

Svojgr, Karel

Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children. [electronic resource] - European journal of medical genetics Mar 2016 - 152-7 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1878-0849

10.1016/j.ejmg.2015.11.013 doi


Antineoplastic Combined Chemotherapy Protocols--therapeutic use
BRCA2 Protein--genetics
Child, Preschool
Family
Fanconi Anemia--diagnosis
Female
Humans
Immunophenotyping
In Situ Hybridization, Fluorescence
Loss of Heterozygosity
Magnetic Resonance Imaging
Male
Phenotype
Polymorphism, Single Nucleotide