Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS

CONTEXT: Loss-of-function GNAS mutations lead to hormone resistance and Albright’s hereditary osteodystrophy (AHO) when maternally inherited, i.e. pseudohypoparathyroidism-Ia (PHPIa), but cause AHO alone when located on the paternal allele, i.e. pseudoPHP (PPHP). OBJECTIVE: We aimed to establish the...

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Enregistré dans:
Détails bibliographiques
Publié dans:Bone
Auteurs principaux: Turan, Serap, Thiele, Susanne, Tafaj, Olta, Brix, Bettina, Atay, Zeynep, Abali, Saygin, Haliloglu, Belma, Bereket, Abdullah, Bastepe, Murat
Format: Artigo
Langue:Inglês
Publié: 2014
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4273232/
https://ncbi.nlm.nih.gov/pubmed/25464124
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2014.10.006
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