A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome

Kabuki syndrome (KS) is a disease characterized by distinctive facial features, skeletal anomalies and delay in neuromotor development. KS 1 is an autosomal dominant condition caused by mutations in the KMT2D gene, whereas KS 2 is an X-linked disorder caused by mutations in the KDM6A gene. In the ma...

Descripción completa

Detalles Bibliográficos
Autores principales: Mısırlıgil, Mina, Yıldız, Yılmaz, Akın, Onur, Odabaşı Güneş, Sevinç, Arslan, Mutluay, Ünay, Bülent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638635/
https://www.ncbi.nlm.nih.gov/pubmed/32830475
http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0065

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638635/
https://www.ncbi.nlm.nih.gov/pubmed/32830475
http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0065

Ejemplares similares