Şenay Savaş Erdeve Merih Berberoğlu Zeynep Şıklar Olcay Evliyaoğlu Olaf Hiort Gönül Öcal
10.4274/jcrpe.v2i2.85
J Clin Res Pediatr Endocrinol
2010;2(2):85-8.
albright’s hereditary osteodystrophy pseudohypoparathyroidism type ia mutation
CC BY
https://pubmed.ncbi.nlm.nih.gov/21274345/
Exons / genetics GTP-Binding Protein alpha Subunits, Gs / genetics Mutation, Missense Pseudohypoparathyroidism / genetics
Exons / genetics GTP-Binding Protein alpha Subunits, Gs / genetics Mutation, Missense Pseudohypoparathyroidism / genetics Case Reports Calcitriol / therapeutic use Child Chromogranins Female Follow-Up Studies Humans Male Pedigree Pseudohypoparathyroidism / classification Pseudohypoparathyroidism / drug therapy Time Factors Vitamins / therapeutic use Chromogranins Vitamins GNAS protein, human GTP-Binding Protein alpha Subunits, Gs Calcitriol
PMC3005667
21274345
Long-term follow-up of a pseudohypoparathyroidism type 1A patient with missense mutation (Pro115Ser) in exon 5
2010