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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Detalhes bibliográficos
Publicado no:J Bone Miner Res
Main Authors: Takatani, Rieko, Molinaro, Angelo, Grigelioniene, Giedre, Tafaj, Olta, Watanabe, Tomoyuki, Reyes, Monica, Sharma, Amita, Singhal, Vibha, Raymond, F Lucy, Linglart, Agnès, Jüppner, Harald
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha: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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