MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males.

Wen, Yongxin; Wang, Jiaping; Zhang, Qingping; Yang, Xiaoxu; Wei, Liping; Bao, Xinhua

Wen, Yongxin; Wang, Jiaping; Zhang, Qingping; Yang, Xiaoxu; Wei, Liping; Bao, Xinhua.

Afiliación

Wen Y; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Wang J; Department of Pediatric Neurology, Guangdong Women and Children Hospital, Guangzhou, Guangdong Province, China.
Zhang Q; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Yang X; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Wei L; Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing, China.
Bao X; Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing, China.

BMC Med ; 21(1): 155, 2023 04 20.

Article en En | MEDLINE | ID: mdl-37081442

Asunto(s)

Síndrome de Rett; Adulto; Femenino; Humanos; Masculino; Padre; Células Germinativas; Mosaicismo; Mutación; Fenotipo; Síndrome de Rett/genética; Semen

Palabras clave

De novo; Germline; MECP2; Mosaicism; Rett syndrome

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome de Rett Límite: Adult / Female / Humans / Male Idioma: En Revista: BMC Med Asunto de la revista: MEDICINA Año: 2023 Tipo del documento: Article País de afiliación: China

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