Facial cleft? The first case of manitoba-oculo-tricho-anal syndrome with novel mutations in China: a case report.

Gu, Shuchen; Khoong, Yimin; Huang, Xin; Zan, Tao

Gu, Shuchen; Khoong, Yimin; Huang, Xin; Zan, Tao.

Afiliação

Gu S; Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, 639 Zhizaoju Road, 200011, Shanghai, China.
Khoong Y; Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, 639 Zhizaoju Road, 200011, Shanghai, China.
Huang X; Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, 639 Zhizaoju Road, 200011, Shanghai, China.
Zan T; Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, 639 Zhizaoju Road, 200011, Shanghai, China. zantaodoctor@yahoo.com.

BMC Pediatr ; 21(1): 46, 2021 01 21.

Article em En | MEDLINE | ID: mdl-33478401

Assuntos

Anormalidades Múltiplas; Coloboma; Anormalidades Múltiplas/diagnóstico; Anormalidades Múltiplas/genética; Criança; China; Feminino; Humanos; Manitoba; Mutação

Palavras-chave

Case report; FREM1 gene; MOTA syndrome; Mutation

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Coloboma Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans País como assunto: America do norte / Asia Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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