A novel heterozygous frameshift pathogenic variant in GCM2 gene causing isolated hypoparathyroidism: a case report

A novel heterozygous frameshift pathogenic variant in GCM2 gene causing isolated hypoparathyroidism: a case report

Glial cells missing transcription factor 2 (GCM2) is one of the genes responsible for isolated hypoparathyroidism. Most cases of hypoparathyroidism caused by GCM2 pathogenic variants result from homozygous or compound heterozygous loss-of-function variants, with only a limited number of heterozygous...

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Bibliographic Details
Main Authors: Ayano Onishi, Yoshinari Obata, Tomoaki Hayakawa, Makoto Fujiwara, Yasuhisa Ohata, Yuri Tamura, Satoshi Kawata, Kosuke Mukai, Kazuyuki Miyashita, Kenichi Yamamoto, Takuo Kubota, Atsunori Fukuhara, Iichiro Shimomura
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Endocrinology
Subjects:
hypoparathyroidism
GCM2
heterozygous
novel variant
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2025.1589182/full
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https://www.frontiersin.org/articles/10.3389/fendo.2025.1589182/full

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