Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3)

Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3)

ObjectiveTo identify the genetic cause underlying the methylation defect in a patient with clinical suspicion of PHP1B/iPPSD3.DesignImprinting is an epigenetic mechanism that allows the regulation of gene expression. The GNAS locus is one of the loci within the genome that is imprinted. When the met...

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Bibliographic Details
Main Authors: Africa Manero-Azua, Yerai Vado, Judith Gonzàlez Morlà, Eduard Mogas, Arrate Pereda, Guiomar Perez de Nanclares
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-12-01
Series:Frontiers in Endocrinology
Subjects:
PHP1B
iPPSD3
GNAS
heterodisomy
upd(20)pat
MS-MLPA
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2024.1505244/full
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