Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS

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 enc...

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Main Authors: Bastepe, Murat, Fröhlich, Leopold F., Hendy, Geoffrey N., Indridason, Olafur S., Josse, Robert G., Koshiyama, Hiroyuki, Körkkö, Jarmo, Nakamoto, Jon M., Rosenbloom, Arlan L., Slyper, Arnold H., Sugimoto, Toshitsugu, Tsatsoulis, Agathocles, Crawford, John D., Jüppner, Harald
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2003
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC213493/
https://ncbi.nlm.nih.gov/pubmed/14561710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI200319159
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