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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Clin Epigenetics
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2016
Aiheet:
Research
Linkit: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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