Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review

Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated with Kabuki syndrome i.e., KMT2D and KDM6A, whic...

Descripción completa

Detalles Bibliográficos
Autores principales: Gole, Hobia, Chuk, Raymond, Coman, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications, Pavia, Italy 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5067400/
https://www.ncbi.nlm.nih.gov/pubmed/27777708
http://dx.doi.org/10.4081/cp.2016.848

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5067400/
https://www.ncbi.nlm.nih.gov/pubmed/27777708
http://dx.doi.org/10.4081/cp.2016.848

Ejemplares similares