Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children. [electronic resource]
Producer: 20161213Description: 152-7 p. digitalISSN:- 1878-0849
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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