Bohring-Opitz syndrome caused by a novel ASXL1 mutation (c.3762delT) in an IVF baby: A case report.

Wang, Dongbo; Yuan, Xin; Guo, Haichun; Yan, Shuyuan; Wang, Guohong; Wang, Yanling; Wang, Tuanmei; He, Jun; Peng, Xiangwen

Wang, Dongbo; Yuan, Xin; Guo, Haichun; Yan, Shuyuan; Wang, Guohong; Wang, Yanling; Wang, Tuanmei; He, Jun; Peng, Xiangwen.

Afiliação

Wang D; Changsha Hospital for Maternal and Child Health Care of Hunan Normal University, China.
Yuan X; The First Hospital of Hunan University of Chinese Medicine, China.
Guo H; Changsha Hospital for Maternal and Child Health Care of Hunan Normal University, China.
Yan S; Changsha Hospital for Maternal and Child Health Care of Hunan Normal University, China.
Wang G; Changsha Hospital for Maternal and Child Health Care of Hunan Normal University, China.
Wang Y; Changsha Hospital for Maternal and Child Health Care of Hunan Normal University, China.
Wang T; Changsha Hospital for Maternal and Child Health Care of Hunan Normal University, China.
He J; Changsha Hospital for Maternal and Child Health Care of Hunan Normal University, China.
Peng X; Changsha Hospital for Maternal and Child Health Care of Hunan Normal University, China.

Medicine (Baltimore) ; 101(5): e28759, 2022 Feb 04.

Article em En | MEDLINE | ID: mdl-35119035

Assuntos

Craniossinostoses/genética; Deficiência Intelectual/genética; Proteínas Repressoras/genética; Pré-Escolar; Feminino; Fertilização in vitro; Humanos; Lactente; Mutação; Fenótipo; Sialorreia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Craniossinostoses / Deficiência Intelectual Limite: Child, preschool / Female / Humans / Infant Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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