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• W2011015638 abstract "PurposeFanconi 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.MethodsThirty-five black patients were recruited from tertiary level hematology/oncology clinics in South Africa. Participants were subjected to a comprehensive clinical examination, documenting growth, congenital anomalies, and phenotypic variability.ResultsDescriptive statistical analysis showed significant growth abnormalities in many patients and a high frequency (97%) of skin pigmentary anomalies. Subtle anomalies of the eyes, ears, and hands occurred frequently (≥70%). Apart from malformations of the kidney (in 37%) and gastrointestinal tract (in 8.5%), congenital anomalies of other systems including the cardiovascular and central nervous systems, genitalia, and vertebrae were infrequent (<5%).ConclusionThe diagnosis of Fanconi anemia in black South African patients before the onset of hematological symptoms remains a clinical challenge, with the physical phenotype unlikely to be recognized by those without dysmorphology expertise." @default.
• W2011015638 created "2016-06-24" @default.
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• W2011015638 date "2014-05-01" @default.
• W2011015638 modified "2023-09-25" @default.
• W2011015638 title "Phenotypic consequences in black South African Fanconi anemia patients homozygous for a founder mutation" @default.
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• W2011015638 doi "https://doi.org/10.1038/gim.2013.159" @default.
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