[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.

Affiliation

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 in Zh | MEDLINE | ID: mdl-30098249

Subject(s)

Chondrodysplasia Punctata/genetics; Dwarfism/genetics; Steroid Isomerases/genetics; Child; Child, Preschool; DNA Mutational Analysis; Female; Heterozygote; Humans; Male; Mutation; Pedigree

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Full text: 1 Database: MEDLINE Main subject: Steroid Isomerases / Chondrodysplasia Punctata / Dwarfism Limits: Child / Child, preschool / Female / Humans / Male Language: Zh Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Journal subject: GENETICA MEDICA Year: 2018 Type: Article

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