Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects

BACKGROUND: Pseudohypoparathyroidism (PHP) is caused by (epi)genetic defects in the imprinted GNAS cluster. Current classification of PHP patients is hampered by clinical and molecular diagnostic overlaps. The European Consortium for the study of PHP designed a genome-wide methylation study to impro...

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Библиографические подробности
Опубликовано в: :Clin Epigenetics
Главные авторы: Rochtus, Anne, Martin-Trujillo, Alejandro, Izzi, Benedetta, Elli, Francesca, Garin, Intza, Linglart, Agnes, Mantovani, Giovanna, Perez de Nanclares, Guiomar, Thiele, Suzanne, Decallonne, Brigitte, Van Geet, Chris, Monk, David, Freson, Kathleen
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2016
Предметы:
Research
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4728790/
https://ncbi.nlm.nih.gov/pubmed/26819647
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13148-016-0175-8
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