MON-068 The First Case in Korea, ZC4H2 Gene Mutation in Wieacker-Wolff Syndrome with Recurrent Hypoglycemia

Wieacker-Wolff syndrome was first described in 1985 and is a rare congenital syndrome cause by ZC4H2 mutation. It is a X-linked recessive disorder characterized by congenital contracture of the feet, mental retardation, progressive neurologic muscular atrophy, scoliosis, and hypoglycemia. 9-years-ol...

Full description

Saved in:
Bibliographic Details
Published in:J Endocr Soc
Main Authors: Lee, Gahyun, Kim, Sejin, Kang, Seokjin, Kim, Heungsik
Format: Artigo
Language:Inglês
Published: Oxford University Press 2020
Subjects:
Pediatric Endocrinology
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7209087/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1199
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items