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RSS FeedsA novel GNAS mutation in pseudohypoparathyroidism type 1a in a Chinese man presented with recurrent seizure: a case report (BMC Endocrine Disorders)

 
 

9 january 2021 23:48:51

 
A novel GNAS mutation in pseudohypoparathyroidism type 1a in a Chinese man presented with recurrent seizure: a case report (BMC Endocrine Disorders)
 


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 pse...


 
100 viewsCategory: Pathology
 
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