Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.

Ma, Cong; Liu, Lv; Wang, Fang-Na; Tian, Hai-Shen; Luo, Yan; Yu, Rong; Fan, Liang-Liang; Li, Ya-Li

Ma, Cong; Liu, Lv; Wang, Fang-Na; Tian, Hai-Shen; Luo, Yan; Yu, Rong; Fan, Liang-Liang; Li, Ya-Li.

Afiliação

Ma C; Departments of Reproductive Genetics, HeBei General Hospital, ShiJiaZhuang, 050051, China.
Liu L; Department of Respiratory Medicine, Diagnosis and Treatment Center of Respiratory Disease, Diagnosis and Treatment Center of Respiratory Disease, the Second Xiangya Hospital of Central South University, Changsha, 410011, Hunan, China.
Wang FN; Departments of Reproductive Genetics, HeBei General Hospital, ShiJiaZhuang, 050051, China.
Tian HS; Departments of Reproductive Genetics, HeBei General Hospital, ShiJiaZhuang, 050051, China.
Luo Y; Departments of Reproductive Genetics, HeBei General Hospital, ShiJiaZhuang, 050051, China.
Yu R; Departments of Anesthesiology, the Second Xiangya Hospital, Central South University, Changsha, 410011, China.
Fan LL; Department of Cell Biology, The School of Life Sciences, Central South University, Changsha, 410011, Hunan, China. swfanliangliang@csu.edu.cn.
Li YL; Departments of Reproductive Genetics, HeBei General Hospital, ShiJiaZhuang, 050051, China. lyl8703@sina.com.

BMC Med Genet ; 20(1): 169, 2019 11 06.

Article em En | MEDLINE | ID: mdl-31694554

Assuntos

Proteínas de Transporte/genética; Articulações dos Dedos/anormalidades; Artropatias/congênito; Mutação; Adolescente; Adulto; Surdez/genética; Feminino; Humanos; Artropatias/diagnóstico; Artropatias/genética; Masculino; Pessoa de Meia-Idade; Linhagem; Diagnóstico Pré-Natal

Palavras-chave

Deafness; NOG mutation; Prenatal diagnosis; Proximal symphalangism

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Articulações dos Dedos / Artropatias / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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