A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent M üllerian Duct Syndrome.

We report on a male patient with bilateral undescended gonads, müllerian derivatives, and normal serum AMH levels. A novel homozygous missense mutation, c.119G>C;p.Gly40Ala, in exon 2 of AMHR2 was detected that supported the clinical diagnosis of PMDS. PMID: 30933950 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/30933950?dopt=Abstract

Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - April 1, 2019 Category: Genetics & Stem Cells Authors: Fernández-Cancio M, Viswanath N, Puzhankara R, Valiyaprambil Pavithran P, Mora-Palma C, Camats N, Audí L, Benito-Sanz S Tags: Sex Dev Source Type: research