Albright hereditary osteodystrophy: report of a particular clinical phenotype caused by a novel GNAS mutation.
Alvarez
F
F
Kottler
M L
ML
Paul
C
C
Gennero
I
I
Salles
J P
JP
Mazereeuw-Hautier
J
J
D002648:Child; D002864:Chromogranins; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000175:diagnosis / Q000235:genetics; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011547:Pseudohypoparathyroidism; D011859:Radiography; D013933:Thumb / Q000002:abnormalities / Q000000981:diagnostic imaging; D014034:Toes / Q000002:abnormalities / Q000000981:diagnostic imaging
D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs