TITLE

Clinical utility gene card for: Pseudohypoparathyroidism

AUTHOR(S)
Mantovani, Giovanna; Linglart, Agnes; Garin, Intza; Silve, Caroline; Elli, Francesca M; de Nanclares, Guiomar Perez
PUB. DATE
June 2013
SOURCE
European Journal of Human Genetics;Jun2013, Vol. 21 Issue 6, p1
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
The article offers information on the genetic aspect of pseudohypoparathyroidism (PHP). It mentions that PHP is caused by haploinsufficiency due to maternally-inherited heterozygous inactivating mutations of GNAS gene. It adds that special care should be practiced in the interpretation of the disease variants. Moreover, it cites important things on how to validate the genetic aspect of the disease.
ACCESSION #
87598063

 

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