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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Vydáno v:Clin Epigenetics
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2016
Témata:
Research
On-line přístup: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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