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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Publicat a:Clin Epigenetics
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2016
Matèries:
Research
Accés en línia: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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