Condition: Pseudopseudohypoparathyroidism
rs137854535 in
GNAS gene and
Pseudopseudohypoparathyroidism
PMID 9727013 1998 A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation.
PMID 25802881 2015 A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
PMID 23533243 2013 Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.
PMID 11092390 2000 Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.
PMID 21525160 2011 Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy.