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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Publicado en:J Bone Miner Res
Autores principales: 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
Lenguaje:Inglês
Publicado: 2015
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Article
Acceso en línea: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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