Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review

BACKGROUND: Kabuki syndrome (KS) is a rare pediatric congenital disorder with multiple congenital anomalies and intellectual disabilities, which is inherited in an autosomal dominant manner. Mutations in KMT2D and KDM6A have been proven to be the primary cause in most cases of KS. CASE PRESENTATION:...

Descripción completa

Detalles Bibliográficos
Autores principales: Xin, Chengqi, Wang, Chun, Wang, Yachen, Zhao, Jingyuan, Wang, Liang, Li, Runjie, Liu, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389055/
https://www.ncbi.nlm.nih.gov/pubmed/29482518
http://dx.doi.org/10.1186/s12881-018-0545-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389055/
https://www.ncbi.nlm.nih.gov/pubmed/29482518
http://dx.doi.org/10.1186/s12881-018-0545-5

Ejemplares similares