A Novel GNAS Duplication Associated With Loss-of-Methylation Restricted to Exon A/B Causes Pseudohypoparathyroidism Type Ib (PHP1B)

Pseudohypoparathyroidism type Ib (PHP1B) is characterized by resistance to parathyroid hormone (PTH) leading to hypocalcemia and hyperphosphatemia, and in some cases resistance toward additional hormones. Patients affected by this disorder all share a loss-of-methylation (LOM) at the differentially...

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Detalhes bibliográficos
Publicado no:J Bone Miner Res
Main Authors: Reyes, Monica, Kagami, Masayo, Kawashima, Sayaka, Pallotta, Johanna, Schnabel, Dirk, Fukami, Maki, Jüppner, Harald
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8048081/
https://ncbi.nlm.nih.gov/pubmed/33180333
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.4209
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