Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP-Ib?

Fernández-Rebollo E., Pérez De Nanclares G., Lecumberri B., Turan S., Anda E., Pérez-Nanclares G., ...More

Journal of Bone and Mineral Research, vol.26, no.8, pp.1854-1863, 2011 (SCI-Expanded, Scopus)

• Publication Type: Article / Article
• Volume: 26 Issue: 8
• Publication Date: 2011
• Doi Number: 10.1002/jbmr.408
• Journal Name: Journal of Bone and Mineral Research
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.1854-1863
• Keywords: PARATHYROID HORMONE, PSEUDOHYPOPARATHYROIDISM IB, GNAS LOCUS, METHYLATION, AUTOSOMAL RECESSIVE, PSEUDOHYPOPARATHYROIDISM TYPE-IB, IMPRINTING CONTROL ELEMENT, EPIGENETIC DEFECTS, HEREDITARY OSTEODYSTROPHY, MUTATIONS, DELETION, DOMINANT, HYPOMETHYLATION, FEATURES, LEADS
• Marmara University Affiliated: Yes