SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis.

Yang, Yongjia; Zheng, Yu; Li, Wangming; Li, Liping; Tu, Ming; Zhao, Liu; Mei, Haibo; Zhu, Guanghui; Zhu, Yimin

Yang, Yongjia; Zheng, Yu; Li, Wangming; Li, Liping; Tu, Ming; Zhao, Liu; Mei, Haibo; Zhu, Guanghui; Zhu, Yimin.

Afiliación

Yang Y; The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, China. yongjia727@aliyun.com.
Zheng Y; The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, China.
Li W; Department of Radiology, Hunan Children's Hospital, University of South China, Changsha, China.
Li L; The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, China.
Tu M; The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, China.
Zhao L; The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, China.
Mei H; Department of Orthopedics, Hunan Children's Hospital, University of South China, Changsha, China.
Zhu G; Department of Orthopedics, Hunan Children's Hospital, University of South China, Changsha, China.
Zhu Y; The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, China. xiangeryiym@aliyun.com.

Genet Med ; 21(11): 2577-2585, 2019 11.

Article en En | MEDLINE | ID: mdl-31138930

Asunto(s)

Radio (Anatomía)/anomalías; Proteína smad6/genética; Sinostosis/genética; Cúbito/anomalías; Adolescente; Adulto; Alelos; Niño; Preescolar; Familia; Femenino; Frecuencia de los Genes/genética; Humanos; Lactante; Recién Nacido; Masculino; Mutación Missense/genética; Linaje; Penetrancia; Análisis de Secuencia de ADN/métodos; Proteína smad6/metabolismo; Secuenciación del Exoma/métodos

Palabras clave

GTG banding; NOG; SMAD6; exome sequencing; nsRUS

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Radio (Anatomía) / Sinostosis / Cúbito / Proteína smad6 Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: China

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