Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development.

Wei, Jia; Wu, Jiaqi; Ru, Wei; Chen, Guangjie; Gao, Lei; Tang, Daxing

Wei, Jia; Wu, Jiaqi; Ru, Wei; Chen, Guangjie; Gao, Lei; Tang, Daxing.

Afiliación

Wei J; Department of Urology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Wu J; Department of Gastroenterology, The Affiliated Hospital of Hangzhou Normal University, Hangzhou, China.
Ru W; Department of Urology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Chen G; Department of Urology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Gao L; Department of Urology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Tang D; Department of Urology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China. tangdx0206@zju.edu.cn.

BMC Med Genomics ; 15(1): 178, 2022 08 15.

Article en En | MEDLINE | ID: mdl-35971145

Asunto(s)

Trastorno del Desarrollo Sexual 46,XY; Trastornos del Desarrollo Sexual; Proteínas Hedgehog; Adolescente; Trastorno del Desarrollo Sexual 46,XY/genética; Femenino; Proteínas Hedgehog/genética; Hormonas; Humanos; Lactante; Masculino; Mutación; Hermanos

Palabras clave

Desert hedgehog (DHH); Disorders of sex development; Mutation

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos del Desarrollo Sexual / Proteínas Hedgehog / Trastorno del Desarrollo Sexual 46,XY Tipo de estudio: Prognostic_studies Límite: Adolescent / Female / Humans / Infant / Male Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido

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