Condition: FANCONI ANEMIA, COMPLEMENTATION GROUP S


rs45553935 in BRCA1 gene and FANCONI ANEMIA, COMPLEMENTATION GROUP S PMID 25472942 2015 Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

PMID 29133208 2018 Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.

PMID 23269703 2013 Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.