A novel GNAS mutation in pseudohypoparathyroidism type 1a in a Chinese man presented with recurrent seizure: a case report

BACKGROUND: Pseudohypoparathyroidism is a rare genetic disease characterized by hypocalcaemia and hyperphosphataemia due to the defect to the guanine nucleotide-binding protein alpha subunit (GNAS) gene. Patients with pseudoparathyroidism type 1a and 1c could manifest Albright’s hereditary osteodyst...

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Detalles Bibliográficos
Autores principales: Lu, Difei, Dong, Aimei, Zhang, Junqing, Guo, Xiaohui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7796383/
https://www.ncbi.nlm.nih.gov/pubmed/33422028
http://dx.doi.org/10.1186/s12902-020-00651-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7796383/
https://www.ncbi.nlm.nih.gov/pubmed/33422028
http://dx.doi.org/10.1186/s12902-020-00651-z

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