Daniel Doyle Susan M Kirwin Katia Sol-Church Michael A Levine
10.1515/jpem-2012-0080
J Pediatr Endocrinol Metab
2012;25(7-8):741-6.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/23155703/
Hypoparathyroidism / congenital Hypoparathyroidism / genetics Mutation, Missense / physiology Nuclear Proteins / genetics Transcription Factors / genetics
Hypoparathyroidism / congenital Hypoparathyroidism / genetics Mutation, Missense / physiology Nuclear Proteins / genetics Transcription Factors / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adult Base Sequence Child Family Female Humans Infant Infant, Newborn Male Pedigree Severity of Illness Index GCM2 protein, human Nuclear Proteins Transcription Factors
PMC3694175
23155703
A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism
2012