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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2015
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Online adgang: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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