Ontology highlight
ABSTRACT:
SUBMITTER: Bastepe M
PROVIDER: S-EPMC213493 | biostudies-literature | 2003 Oct
REPOSITORIES: biostudies-literature
Bastepe Murat M Fröhlich Leopold F LF Hendy Geoffrey N GN Indridason Olafur S OS Josse Robert G RG Koshiyama Hiroyuki H Körkkö Jarmo J Nakamoto Jon M JM Rosenbloom Arlan L AL Slyper Arnold H AH Sugimoto Toshitsugu T Tsatsoulis Agathocles A Crawford John D JD Jüppner Harald H
The Journal of clinical investigation 20031001 8
Patients with pseudohypoparathyroidism type Ib (PHP-Ib) have hypocalcemia and hyperphosphatemia due to renal parathyroid hormone (PTH) resistance, but lack physical features of Albright hereditary osteodystrophy. PHP-Ib is thus distinct from PHP-Ia, which is caused by mutations in the GNAS exons encoding the G protein alpha subunit. However, an imprinted autosomal dominant form of PHP-Ib (AD-PHP-Ib) has been mapped to a region of chromosome 20q13.3 containing GNAS. Furthermore, loss of methylati ...[more]