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• W2075319325 abstract "Persistent Müllerian duct syndrome (PMDS) is characterized by the presence of a uterus, fallopian tubes, and the upper part of the vagina in phenotypic normal male patients. Here, we report a patient diagnosed with PMDS with a novel homozygous missense mutation in the anti-Müllerian hormone <i>(AMH)</i> gene (single nucleotide insertion (C) at position 208 (c.208dup, p.Leu70fs)) leading to a frameshift and the introduction of a premature stop codon. Biopsy of both gonads revealed that germ cells were present in an irregular distribution. However, the absence of OCT3/4, PLAP and c-KIT expression indicated physiological maturation." @default.
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• W2075319325 date "2012-01-01" @default.
• W2075319325 modified "2023-09-26" @default.
• W2075319325 title "A Novel <b><i>AMH</i></b> Missense Mutation in a Patient with Persistent Müllerian Duct Syndrome" @default.
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• W2075319325 doi "https://doi.org/10.1159/000339704" @default.
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