A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism

A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism

Background: Isolated hypoparathyroidism comprises a set of heterogeneous inherited diseases associated with abnormal calcium metabolism exclusively due to parathyroid hormone (PTH) deficiency. Isolated hypoparathyroidism can be either sporadic or inherited. Genetic causes that impair the synthesis o...

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Bibliographic Details
Main Authors: Khloud M. Al Rubaya, Faten F. AlMijmaj, Talal S. AlAnzi, Abdullah A. AlJasser
Format: Article
Language:English
Published: Discover STM Publishing Ltd 2022-06-01
Series:Journal of Biochemical and Clinical Genetics
Subjects:
gcm2
gcmb
hypoparathyroidism
c.391c>t
casr
case report
Online Access:http://www.ejmanager.com/fulltextpdf.php?mno=124552

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