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Article

Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development.

Molecular human reproduction - 31 Jan 2023

Kulkarni Vinayak, Chellasamy Selvaa Kumar, Dhangar Somprakash, Ghatanatti Jagdeeshwar, Vundinti Babu Rao

Abstract excerpt

Disorders of sex development (DSD) are a group of clinical conditions with variable presentation and genetic background. Females with or without development of secondary sexual characters and presenting with primary amenorrhea (PA) and a 46,XY karyotype are one of the classified groups in DSD. In this study, we aimed to determine the genetic mutations in 25 females with PA and a 46,XY karyotype to show...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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Identifiers

PMID: 36617173
DOI: 10.1093/molehr/gaad001
PMCID: PMC10167928

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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