Associated Papers
Identifying infrequent genetic changes in monozygotic twins afflicted with hypospadias via targeted panel sequencing.
Kim JH et al.
Investigative and Clinical Urology, 2024
A novel AMH variant at the prehelix loop impairs the binding to AMHR2 and causes persistent Müllerian duct syndrome.
Du Q et al.
Asian Journal of Andrology, 2024
Application of whole exome sequencing in carrier screening for high-risk families without probands.
Huang Q et al.
Frontiers in Genetics, 2024
Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.
Tang Y et al.
Endocrine Connections, 2023
Somatic Mutation of PRKAR1A in Four Cases of Sporadic Cardiac Myxoma.
Sun Y et al.
Archives of Iranian Medicine, 2023
38310436 (PubMed )
Supplement: aim-26-346-s001.pdf
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
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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