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Kabuki syndrome:two case report / 临床儿科杂志
Journal of Clinical Pediatrics ; (12): 53-56, 2018.
Artigo em Chinês | WPRIM | ID: wpr-694639
ABSTRACT
Objective To summarize the clinical features and genetic diagnosis of Kabuki syndrome. Methods The clinical data of Kabuki syndrome in 2 children were retrospectively analyzed. Results Both of them were male and over 1 year old. They had special facial features and febrile convulsion. Gene detection indicated that both of them had mutation in KMT2D (or MLL2) gene, but the clinical phenotypes were different. Conclusion Children with clinically suspected Kabuki syndrome can be confirmed by gene detection.

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Idioma: Chinês Revista: Journal of Clinical Pediatrics Ano de publicação: 2018 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Idioma: Chinês Revista: Journal of Clinical Pediatrics Ano de publicação: 2018 Tipo de documento: Artigo