Case report
Open access
Aug 2026
Case Report: Three pathogenic molecular findings in a patient with myotonia congenita, pseudohypoparathyroidism, and a glaucoma-suspect phenotype
A patient with longstanding myotonia congenita due to a CLCN1 variant in whom an incidental discovery of severe hypocalcemia led to the diagnosis of GNAS-related pseudohypoparathyroidism (PHP), demonstrating two clinically expressed Mendelian disorders together with a third actionable molecular finding.
Noha N. Mukhtar, Deema Alturki, Allianah D. Benito et al.
· Frontiers in Endocrinology · 0 citations