A patient with pseudohypoparathyroidism type 1A previously misdiagnosed as hereditary multiple exostosis: A case report

Pseudohypoparathyroidism type 1A (PHP1A), a rare hereditary disorder, is featured by end-organ resistance to parathyroid hormone and Albright's hereditary osteodystrophy. Heterozygous mutation of guanine nucleotide-binding protein α stimulating (GNAS) gene causes the half decreased bioactivity...

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Detalles Bibliográficos
Autores principales: Zhang, Jie, Guan, Ming, Zhao, Shiyong, Wu, Suling, Weng, Lingwei, Sheng, Wenbin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9353500/
https://www.ncbi.nlm.nih.gov/pubmed/35949342
http://dx.doi.org/10.3892/etm.2022.11534

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