Whole-Exome Sequencing Identified a TBX6 Loss of Function Mutation in a Patient with Distal Vaginal Atresia.

Chu, Chunfang; Li, Lin; Lu, Dan; Duan, Ai-Hong; Luo, Li-Jing; Li, Shenghui; Yin, Chenghong

Chu, Chunfang; Li, Lin; Lu, Dan; Duan, Ai-Hong; Luo, Li-Jing; Li, Shenghui; Yin, Chenghong.

Afiliação

Chu C; Department of Gynecology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Chaoyang, Beijing, China.
Li L; Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Chaoyang, Beijing, China.
Lu D; Department of Gynecology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Chaoyang, Beijing, China.
Duan AH; Department of Gynecology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Chaoyang, Beijing, China.
Luo LJ; Department of Gynecology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Chaoyang, Beijing, China.
Li S; Department of Gynecology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Chaoyang, Beijing, China. Electronic address: liangli75@sina.com.
Yin C; Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Chaoyang, Beijing, China. Electronic address: modscn@126.com.

J Pediatr Adolesc Gynecol ; 32(5): 550-554, 2019 Oct.

Article em En | MEDLINE | ID: mdl-31233831

Assuntos

Anormalidades Congênitas/genética; Sequenciamento do Exoma/métodos; Proteínas com Domínio T/genética; Vagina/anormalidades; Adolescente; China; Feminino; Humanos; Lactente; Mutação com Perda de Função; Estudos Retrospectivos

Palavras-chave

Distal vaginal atresia; Female genital tract; Lower vaginal atresia; TBX6; Whole-exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Congênitas / Vagina / Proteínas com Domínio T / Sequenciamento do Exoma Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Female / Humans / Infant País como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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