Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion

Proximal tubular resistance to parathyroid hormone (PTH) resulting in hypocalcemia and hyperphosphatemia are preeminent abnormalities in pseudohypoparathyroidism type Ib (PHP1B), but resistance toward other hormones as well as variable features of Albright’s Hereditary Osteodystrophy (AHO) can occur...

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Bibliografski detalji
Izdano u:J Bone Miner Res
Glavni autori: Takatani, Rieko, Molinaro, Angelo, Grigelioniene, Giedre, Tafaj, Olta, Watanabe, Tomoyuki, Reyes, Monica, Sharma, Amita, Singhal, Vibha, Raymond, F Lucy, Linglart, Agnès, Jüppner, Harald
Format: Artigo
Jezik:Inglês
Izdano: 2015
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4826817/
https://ncbi.nlm.nih.gov/pubmed/26479409
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.2731
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