Article
The clinical and genetic features of hereditary haemorrhagic telangiectasia (HHT) in central South Africa-three novel pathogenic variants.
Molecular biology reports - 1 Dec 2020
Mutize Tendaishe T, Seedat Riaz Y, Ploos van Amstel Johannes K, Mager Johannes J, Brown Stephen C, Gebremariam Fekade, Coetzee Marius J
Abstract excerpt
Hereditary haemorrhagic telangiectasia (HHT) is supposedly rare in Africa, with only three pathogenic variants documented to date. We describe the clinical and genetic features of HHT patients in central South Africa, who fulfilled the Curaçao criteria. Sixteen patients (median age 38.5 years, range 12-65 years), from six families were included. Fifteen patients were of African descent and one was of Afrikaner...
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