[Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome].

Li, Zi Quan; Geng, Mo Zhao; Zhao, Sen; Wu, Zhi Hong; Zhang, Jian Guo; Wu, Nan; Wang, Yi Peng

Li, Zi Quan; Geng, Mo Zhao; Zhao, Sen; Wu, Zhi Hong; Zhang, Jian Guo; Wu, Nan; Wang, Yi Peng.

Afiliação

Li ZQ; Department of Orthopaedics, PUMC Hospital, CANS and PUMC, Beiig 10730 China.
Geng MZ; Beijing Key Laboratory for Genetic Research of Skeletal Deformity,PUMC Hospital, CANS and PUMC, Beiig 10730 China.
Zhao S; Department of Orthopaedics, PUMC Hospital, CANS and PUMC, Beiig 10730 China.
Wu ZH; Beijing Key Laboratory for Genetic Research of Skeletal Deformity,PUMC Hospital, CANS and PUMC, Beiig 10730 China.
Zhang JG; Department of Orthopaedics, PUMC Hospital, CANS and PUMC, Beiig 10730 China.
Wu N; Department of Orthopaedics, PUMC Hospital, CANS and PUMC, Beiig 10730 China.
Wang YP; Beijing Key Laboratory for Genetic Research of Skeletal Deformity,PUMC Hospital, CANS and PUMC, Beiig 10730 China.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 43(1): 25-31, 2021 Feb 28.

Article em Zh | MEDLINE | ID: mdl-33663658

Assuntos

Síndrome de Klippel-Feil; Vértebras Cervicais; Criança; Estudos de Coortes; Feminino; Glicoproteínas; Humanos; Síndrome de Klippel-Feil/diagnóstico por imagem; Síndrome de Klippel-Feil/genética; Masculino; Mutação; Proteínas Nucleares; Radiografia; Fatores de Transcrição/genética

Palavras-chave

Klippel-Feil syndrome; associated anomalies; clinical triad; gene mutation; multigene panel sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Klippel-Feil Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies / Screening_studies Limite: Child / Female / Humans / Male Idioma: Zh Revista: Zhongguo Yi Xue Ke Xue Yuan Xue Bao Ano de publicação: 2021 Tipo de documento: Article

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