Case report: Kabuki syndrome and persistent hypoglycemia in neonates

Case report: Kabuki syndrome and persistent hypoglycemia in neonates

The Kabuki syndrome (KS) is a rare congenital disease that has two different types, KS1 and KS2, with variant in epigenetic gene KMT2D and KDM6A, respectively. It is associated with multiple abnormalities such as (developmental delay, atypical facial features, cardiac anomalies, minor skeleton anoma...

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Bibliographic Details
Main Authors: Osama Y Safdar, Miral M Abddulghfar, Renad N Saaty, Zahrah Bernawi, Reem Babteen, Osama M Felemban
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2024-12-01
Series:Journal of Family Medicine and Primary Care
Subjects:
acidosis
hypoglycemia
kabuki
Online Access:https://journals.lww.com/10.4103/jfmpc.jfmpc_674_24
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