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Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature

OBJECTIVE: This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectrum of 47 Chinese Kabuki syndrome (KS) patients. METHODS: Blood samples were collected for whole-exome sequencing (WES) for 7 patients and their parents if availa...

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Detalles Bibliográficos
Autores principales:	Shangguan, Huakun, Su, Chang, Ouyang, Qian, Cao, Bingyan, Wang, Jian, Gong, Chunxiu, Chen, Ruimin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6854618/ https://www.ncbi.nlm.nih.gov/pubmed/31727177 http://dx.doi.org/10.1186/s13023-019-1219-x

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