Case Report: A Novel Point Mutation of <i>SOX3</i> in a Subject With Growth Hormone Deficiency, Hypogonadotrophic Hypogonadism, and Borderline Intellectual Disability.

Li, Jing; Zhong, Yuxia; Guo, Tao; Yu, Yerong; Li, Jianwei

Case Report: A Novel Point Mutation of SOX3 in a Subject With Growth Hormone Deficiency, Hypogonadotrophic Hypogonadism, and Borderline Intellectual Disability.

Li, Jing; Zhong, Yuxia; Guo, Tao; Yu, Yerong; Li, Jianwei.

Afiliación

Li J; Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu, China.
Zhong Y; Department of Respirology, West China Hospital of Sichuan University, Chengdu, China.
Guo T; Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu, China.
Yu Y; Department of Endocrinology, Hongya County People's Hospital, Meishan, China.
Li J; Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu, China.

Front Endocrinol (Lausanne) ; 13: 810375, 2022.

Article en En | MEDLINE | ID: mdl-35295983

Asunto(s)

Hipogonadismo; Discapacidad Intelectual; Hormona del Crecimiento/genética; Humanos; Hipogonadismo/genética; Discapacidad Intelectual/genética; Masculino; Mutación Puntual; Factores de Transcripción SOXB1/genética

Palabras clave

SOX3; frame-shift mutation; growth hormone deficiency; hypogonadotrophic hypogonadism; intellectual disability

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hipogonadismo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Humans / Male Idioma: En Revista: Front Endocrinol (Lausanne) Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Suiza

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