Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.

Chen, Tai-Heng; Tian, Xia; Kuo, Pao-Lin; Pan, Hui-Ping; Wong, Lee-Jun C; Jong, Yuh-Jyh

Chen, Tai-Heng; Tian, Xia; Kuo, Pao-Lin; Pan, Hui-Ping; Wong, Lee-Jun C; Jong, Yuh-Jyh.

Afiliação

Chen TH; Division of Pediatric Emergency, Department of Emergency, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
Tian X; Baylor Genetics, Houston, TX, USA.
Kuo PL; Departments of Obstetrics and Gynecology, National Cheng Kung University Hospital, Tainan, Taiwan.
Pan HP; Center for Medical Genetics, National Cheng Kung University Hospital, Tainan, Taiwan.
Wong LC; Baylor Genetics, Houston, TX, USA.
Jong YJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Prenat Diagn ; 36(12): 1135-1138, 2016 Dec.

Article em En | MEDLINE | ID: mdl-27762439

Assuntos

Artrogripose/genética; Proteínas Musculares/genética; Adulto; Artrogripose/diagnóstico; Amostra da Vilosidade Coriônica; Feminino; Sangue Fetal; Movimento Fetal; Heterozigoto; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Linhagem; Gravidez; Segundo Trimestre da Gravidez; Diagnóstico Pré-Natal

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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Artrogripose / Proteínas Musculares Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Pregnancy Idioma: En Revista: Prenat Diagn Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Taiwan

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