Phenotypic consequences in black South African Fanconi anemia patients homozygous for a founder mutation | Zendy

Candice Feben | Zendy; Jennifer G.R. Kromberg | Zendy; Rosalind Wainwright | Zendy; David Stones | Zendy; Chris Sutton | Zendy; Janet Poole | Zendy; Tabitha Haw | Zendy; Amanda Krause | Zendy

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Phenotypic consequences in black South African Fanconi anemia patients homozygous for a founder mutation

Author(s) -

Candice Feben,

Jennifer G.R. Kromberg,

Rosalind Wainwright,

David Stones,

Chris Sutton,

Janet Poole,

Tabitha Haw,

Amanda Krause

Publication year - 2013

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2013.159

Subject(s) - founder effect , fanconi anemia , genetics , phenotype , mutation , biology , medicine , gene , genotype , haplotype , dna repair

Fanconi anemia is a genotypically and phenotypically heterogeneous condition, characterized microscopically by chromosomal instability and breakage. Affected individuals manifest growth restriction and congenital physical abnormalities; most progress to hematological disease including bone marrow aplasia. Black South African Fanconi anemia patients share a common causative founder mutation in the Fanconi G gene in 80% of cases (637_643delTACCGCC). The aim of this study was to investigate the genotype-physical phenotype correlation in a cohort of individuals homozygous for this mutation.

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