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...

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Bibliographic Details
Main Authors: Hobia Gole, Raymond Chuk, David Coman
Format: Article
Language:English
Published: MDPI AG 2016-08-01
Series:Clinics and Practice
Subjects:
Online Access:https://www.clinicsandpractice.org/index.php/cp/article/view/848