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Genetic analysis of a Taiwanese family identifies a DMRT3-OAS3 interaction that is involved in human sexual differentiation through the regulation of ESR1 expression.

Fertility and sterility - 1 Jul 2020

Tsai Chia-Lung, Tsai Chi-Neu, Lee Yun-Shien, Wang Hsin-Shih, Lee Li-Yu, Lin Chiao-Yun, Yang Shu Yuan, Chao Angel

Abstract excerpt

OBJECTIVE: To identify the genetic etiology of recurrent disorders of sex development (DSDs) in a Taiwanese family with 46,XY sex reversal and hypospadias. DESIGN: Genetic and functional studies. SETTING: Academic hospital. PATIENT(S): A three-generation family consisting of 22 members, with eight cases of 46,XY DSD, of whom four have 46,XY male-to-female sex reversal and four are 46,XY males with hypospadias....

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PMID: 32553473
DOI: 10.1016/j.fertnstert.2020.03.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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