Pseudohypoparathyroidism type IA (PHP-Ia): maternally inherited GNAS gene mutation.
Semiz
Serap
S
Department of Pediatrics, Faculty of Medicine, Pamukkale University, Denizli, Turkey.
Duzcan
Fusun
F
Candemir
Masallah
M
Caner
Vildan
V
Thiele
Susanne
S
Semiz
Ender
E
Hiort
Olaf
O
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D002864:Chromogranins; D016368:Frameshift Mutation; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D010375:Pedigree; D011547:Pseudohypoparathyroidism / Q000235:genetics* / Q000473:pathology
D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs