Article
AMH gene mutations in two Egyptian families with persistent müllerian duct syndrome.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2011
Mazen Inas, Abdel Hamid M S, El-Gammal M, Aref A, Amr K
Abstract excerpt
The anti-müllerian hormone (AMH) is responsible for regression of müllerian ducts during male sexual differentiation. Mutations in the AMH gene or its type II receptor gene AMHR2 lead to persistence of the uterus and fallopian tubes in male children, i.e. persistent müllerian duct syndrome (PMDS). Both conditions are transmitted according to an autosomal recessive pattern and are symptomatic only in males. We...
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