A novel <i>SRY</i> pathogenic variant from a 46,XY female harboring a nonsense point mutation (G to A) in position 293.

A novel SRY pathogenic variant from a 46,XY female harboring a nonsense point mutation (G to A) in position 293.

Qin, Shengfang; Wang, Xueyan; Li, Yunxing.

Afiliação

Qin S; Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Hospital for Women and Children Chengdu China.
Wang X; Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Hospital for Women and Children Chengdu China.
Li Y; Department of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Hospital for Women and Children Chengdu China.

Clin Case Rep ; 9(8): e04706, 2021 Aug.

Article em En | MEDLINE | ID: mdl-34466259