Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review.

Wang, Rongyue; Chen, Hua; Wang, Xiaona; Huang, Shiyuan; Xie, Ailan; Wu, Xinmei

Wang, Rongyue; Chen, Hua; Wang, Xiaona; Huang, Shiyuan; Xie, Ailan; Wu, Xinmei.

Afiliação

Wang R; Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China.
Chen H; Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China.
Wang X; Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China.
Huang S; Department of Rehabilitation, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China.
Xie A; Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China.
Wu X; Department of Clinical Laboratory, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China.

Exp Ther Med ; 22(6): 1416, 2021 Dec.

Article em En | MEDLINE | ID: mdl-34676009

Palavras-chave

L1CAM gene mutation; X-linked hydrocephalus; prenatal diagnosis

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Exp Ther Med Ano de publicação: 2021 Tipo de documento: Article País de publicação: Grécia

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