TY  - GEN
AU  - Svojgr,Karel
AU  - Sumerauer,David
AU  - Puchmajerova,Alena
AU  - Vicha,Ales
AU  - Hrusak,Ondrej
AU  - Michalova,Kyra
AU  - Malis,Josef
AU  - Smisek,Petr
AU  - Kyncl,Martin
AU  - Novotna,Drahuse
AU  - Machackova,Eva
AU  - Jencik,Jan
AU  - Pycha,Karel
AU  - Vaculik,Miroslav
AU  - Kodet,Roman
AU  - Stary,Jan
TI  - Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children
SN  - 1878-0849
PY  - 2016///1213
KW  - Antineoplastic Combined Chemotherapy Protocols
KW  - therapeutic use
KW  - BRCA2 Protein
KW  - genetics
KW  - Child, Preschool
KW  - Family
KW  - Fanconi Anemia
KW  - diagnosis
KW  - Female
KW  - Humans
KW  - Immunophenotyping
KW  - In Situ Hybridization, Fluorescence
KW  - Loss of Heterozygosity
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Phenotype
KW  - Polymorphism, Single Nucleotide
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ejmg.2015.11.013
ER  -