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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2014

Feben Candice, Kromberg Jennifer, Wainwright Rosalind, Stones David, Sutton Chris, Poole Janet, Haw Tabitha, Krause Amanda

Abstract excerpt

PURPOSE: 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...

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Identifiers

PMID: 24136620
DOI: 10.1038/gim.2013.159

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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