[Analysis of clinical manifestation and genetic mutation in a child with X-linked chondrodysplasia punctata 2].

Chang, Guoying; Zhou, Yunfang; Yin, Lei; Gu, Longjun; Ying, Daming; Chen, Huijin; Wang, Xiumin; Wang, Jian

Chang, Guoying; Zhou, Yunfang; Yin, Lei; Gu, Longjun; Ying, Daming; Chen, Huijin; Wang, Xiumin; Wang, Jian.

Afiliación

Chang G; Department of Endocrinology and Inborn Error of Metabolism, Shanghai Children's Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200127, China. scmc1678@sina.com; wangxiumin1019@126.com.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 35(4): 527-530, 2018 Aug 10.

Article en Zh | MEDLINE | ID: mdl-30098249

Asunto(s)

Condrodisplasia Punctata/genética; Enanismo/genética; Esteroide Isomerasas/genética; Niño; Preescolar; Análisis Mutacional de ADN; Femenino; Heterocigoto; Humanos; Masculino; Mutación; Linaje

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Texto completo: 1 Colección: 01-internacional Asunto principal: Esteroide Isomerasas / Condrodisplasia Punctata / Enanismo Límite: Child / Child, preschool / Female / Humans / Male Idioma: Zh Revista: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article

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