Associated Papers
Persistent Müllerian duct syndrome in an assisted reproductive patient: a novel variant impairs the biosynthesis and secretion of anti-Müllerian hormone (AMH).
Du Q et al.
Asian Journal of Andrology, 2023
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 2022
36171209 (PubMed )
Supplement: 41439_2022_213_MOESM2_ESM.xlsx › Supplementary_Table_2
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).
Hughes LA et al.
Endocrine Connections, 2019
The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases.
Picard JY et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017
A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: a case report.
Wongprasert H et al.
Journal of Pediatric Urology, 2013
Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome.
Nishi MY et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2012
AMH gene mutations in two Egyptian families with persistent müllerian duct syndrome.
Mazen I et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2011
Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients.
Tian HJ et al.
Asian Journal of Andrology, 0
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