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A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family.
Zaib, Tahir; Ji, Wei; Saleem, Komal; Nie, Guangchen; Li, Chao; Cao, Lin; Xu, Baijun; Dong, Kexian; Yu, Hanfei; Hao, Xuguang; Xue, Yan; Si, Shuhan; Jia, Xueyuan; Wu, Jie; Zhang, Xuelong; Guan, Rongwei; Ji, Guohua; Bai, Jing; Chen, Feng; Liu, Yong; Sun, Wenjing; Fu, Songbin.
Afiliação
  • Zaib T; Laboratory of Medical Genetics, Harbin Medical University, 157 Baojian Road, Nangang District, Harbin, 150081, China.
  • Ji W; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
  • Saleem K; Laboratory of Medical Genetics, Harbin Medical University, 157 Baojian Road, Nangang District, Harbin, 150081, China.
  • Nie G; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
  • Li C; Laboratory of Medical Genetics, Harbin Medical University, 157 Baojian Road, Nangang District, Harbin, 150081, China.
  • Cao L; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
  • Xu B; Department of Hand Surgery the Fifth Hospital of Harbin, 27 Jiankang Road, Xiangfang District, Harbin, 150040, China.
  • Dong K; Department of Orthopaedic Surgery the Second Affiliated Hospital of Harbin Medical University, Harbin, 150086, China.
  • Yu H; Department of Hepatopancreatobiliary Surgery the Second Affiliated Hospital of Harbin Medical University, Harbin, 150086, China.
  • Hao X; Department of Radiology Suihua Cancer Hospital, Suihua, 152000, China.
  • Xue Y; Laboratory of Medical Genetics, Harbin Medical University, 157 Baojian Road, Nangang District, Harbin, 150081, China.
  • Si S; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
  • Jia X; Laboratory of Medical Genetics, Harbin Medical University, 157 Baojian Road, Nangang District, Harbin, 150081, China.
  • Wu J; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
  • Zhang X; Department of Hand Surgery the Fifth Hospital of Harbin, 27 Jiankang Road, Xiangfang District, Harbin, 150040, China.
  • Guan R; Department of Hand Surgery the Fifth Hospital of Harbin, 27 Jiankang Road, Xiangfang District, Harbin, 150040, China.
  • Ji G; Laboratory of Medical Genetics, Harbin Medical University, 157 Baojian Road, Nangang District, Harbin, 150081, China.
  • Bai J; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
  • Chen F; Laboratory of Medical Genetics, Harbin Medical University, 157 Baojian Road, Nangang District, Harbin, 150081, China.
  • Liu Y; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
  • Sun W; Laboratory of Medical Genetics, Harbin Medical University, 157 Baojian Road, Nangang District, Harbin, 150081, China.
  • Fu S; Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University), Ministry of Education, Harbin, China.
BMC Med Genet ; 20(1): 203, 2019 12 23.
Article em En | MEDLINE | ID: mdl-31870337
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Fatores de Transcrição / Sindactilia / Proteínas de Homeodomínio / Duplicação Gênica / Heterozigoto / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Fatores de Transcrição / Sindactilia / Proteínas de Homeodomínio / Duplicação Gênica / Heterozigoto / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China