Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.

Zheng, G Y; Chu, G M; Li, P P; He, R

Zheng, G Y; Chu, G M; Li, P P; He, R.

Afiliación

Zheng GY; Department of Clinical Genetics, Shengjing Hospital of China Medical University, No. 36 San Hao Street, Shenyang, 110004, People's Republic of China.
Chu GM; Department of Clinical Genetics, Shengjing Hospital of China Medical University, No. 36 San Hao Street, Shenyang, 110004, People's Republic of China.
Li PP; Center of Reproductive Medicine, Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, No. 36 San Hao Street, Shenyang, 11000, People's Republic of China.
He R; Department of Clinical Genetics, Shengjing Hospital of China Medical University, No. 36 San Hao Street, Shenyang, 110004, People's Republic of China. 18940251188@163.com.

J Endocrinol Invest ; 46(8): 1613-1622, 2023 Aug.

Article en En | MEDLINE | ID: mdl-36745277

Asunto(s)

Trastorno del Desarrollo Sexual 46,XY; Trastornos del Desarrollo Sexual; Humanos; Trastorno del Desarrollo Sexual 46,XY/genética; Pueblos del Este de Asia; Mutación; Desarrollo Sexual; Fenotipo; Trastornos del Desarrollo Sexual/diagnóstico; Trastornos del Desarrollo Sexual/genética; Factor Esteroidogénico 1/genética; Proteínas de la Membrana/genética; 3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/genética

Palabras clave

AR; Disorders of sex development; NR0B1; NR5A1; SRD5A2

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos del Desarrollo Sexual / Trastorno del Desarrollo Sexual 46,XY Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: J Endocrinol Invest Año: 2023 Tipo del documento: Article Pais de publicación: Italia

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