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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Опубликовано в: :Eur J Hum Genet
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2015
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Policy
Online-ссылка: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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