Molecular analysis of 5α‐reductase type 2 gene in eight unrelated egyptian children with suspected 5α‐reductase deficiency: prevalence of the G34R mutation

Abstract

Among eight unrelated Egyptian children with 5alpha-reductase deficiency, the G34R mutation was identified in five patients. The high consanguinity rate in Egypt suggests a common ancestor with a founder gene effect in cases of G34R mutation.