Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report

BACKGROUND: Kabuki syndrome (KS) is a rare congenital condition with cardinal manifestations of typical facial features, developmental delays, skeletal anomalies, abnormal dermatoglyphic presentations, and mild to moderate intellectual disability. Pathogenic variants in two epigenetic modifier genes...

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Detalles Bibliográficos
Autores principales: Guo, Wei, Zhao, Yanguo, Li, Shuwei, Wang, Jingqun, Liu, Xiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7531129/
https://www.ncbi.nlm.nih.gov/pubmed/33008324
http://dx.doi.org/10.1186/s12881-020-01117-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7531129/
https://www.ncbi.nlm.nih.gov/pubmed/33008324
http://dx.doi.org/10.1186/s12881-020-01117-8

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