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Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.
Zhou, Taifeng; Wang, Yongqian; Zhou, Hang; Liao, Zhiheng; Gao, Bo; Su, Deying; Zheng, Shuhui; Xu, Caixia; Su, Peiqiang.
Afiliação
  • Zhou T; Department of Orthopaedic Surgery, First Affiliated Hospital of Sun Yat-sen University, No.58 Zhongshan 2nd Road, Yuexiu District, Guangzhou, 510080, China.
  • Wang Y; Guangdong Provincial Key Laboratory of Orthopedics and Traumatology, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China.
  • Zhou H; Department of Musculoskeletal Oncology, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China.
  • Liao Z; Department of Orthopaedic Surgery, First Affiliated Hospital of Sun Yat-sen University, No.58 Zhongshan 2nd Road, Yuexiu District, Guangzhou, 510080, China.
  • Gao B; Guangdong Provincial Key Laboratory of Orthopedics and Traumatology, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China.
  • Su D; Department of Orthopaedic Surgery, First Affiliated Hospital of Sun Yat-sen University, No.58 Zhongshan 2nd Road, Yuexiu District, Guangzhou, 510080, China.
  • Zheng S; Guangdong Provincial Key Laboratory of Orthopedics and Traumatology, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, China.
  • Xu C; Department of Spine Surgery, Sun Yat-sen Memorial Hospital, Guangzhou, 510120, China.
  • Su P; Department of Orthopaedic Surgery, First Affiliated Hospital of Sun Yat-sen University, No.58 Zhongshan 2nd Road, Yuexiu District, Guangzhou, 510080, China.
BMC Med Genet ; 19(1): 70, 2018 05 03.
Article em En | MEDLINE | ID: mdl-29724173
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Patela / Análise de Sequência de DNA / Transportadores de Sulfato / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Patela / Análise de Sequência de DNA / Transportadores de Sulfato / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2018 Tipo de documento: Article