European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

Pseudohypoparathyroidism is a rare endocrine disorder that can be caused by genetic (mainly maternally inherited inactivating point mutations, although intragenic and gross deletions have rarely been reported) or epigenetic alterations at GNAS locus. Clinical and molecular characterization of this d...

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Detalles Bibliográficos
Publicado en:Eur J Hum Genet
Main Authors: Garin, Intza, Mantovani, Giovanna, Aguirre, Urko, Barlier, Anne, Brix, Bettina, Elli, Francesca M, Freson, Kathleen, Grybek, Virginie, Izzi, Benedetta, Linglart, Agnès, Perez de Nanclares, Guiomar, Silve, Caroline, Thiele, Susanne, Werner, Ralf
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2015
Assuntos:
Policy
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4666570/
https://ncbi.nlm.nih.gov/pubmed/25005735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.127
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