Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy.
Aldred
M A
MA
Bagshaw
R J
RJ
Macdermot
K
K
Casson
D
D
Murch
S H
SH
Walker-Smith
J A
JA
Trembath
R C
RC
D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000235:genetics* / Q000473:pathology; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D018095:Germ-Line Mutation; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism; D016254:Mutagenesis, Insertional; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational
D004247:DNA; D019205:GTP-Binding Protein alpha Subunits, Gs