Article

Unveiling the 46,XY disorder of sex development patients family with a novel mutation in the GATA4 gene

2021-01-29

Abstract excerpt

<title>Abstract</title> <p>Background GATA-binding protein 4 (GATA4) is the critical regulator in gonadal development and its mutation has been reported related with 46,XY disorder of sex development (DSD). Here, we found the two Chinese cases with 46,XY DSD carried the GATA4 mutation. Physical examinations, B-ultrasound and Karyotype analysis were performed and confirmed the two patients with 46,XY DSD. Results...

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Literature Corpus work: f9586313-0227-5c46-a95e-ec7cbf7092a6
DOI: 10.21203/rs.3.rs-154837/v1

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