Xian-Feng Yu

Late-onset atypical pseudohypoparathyroidism type 1A with intracranial calcification and epilepsy associated with a novel GNAS variant: a case report

Pseudohypoparathyroidism (PHP) type 1A is a rare inherited disorder characterized by resistance to parathyroid hormone and, typically, features of Albright hereditary osteodystrophy. We report a late-onset case in a 59-year-old woman who presented with cognitive decline, behavioral and psychiatric symptoms, gait instab...