Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation.
Baynam
Gareth
G
Genetic Services of Western Australia, Princess Margaret Hospital for Children, Western Australia, Australia. gareth.baynam@health.wa.gov.au
Goldblatt
Jack
J
Schofield
Lyn
L
D000328:Adult; D002805:Chondrocalcinosis / Q000000981:diagnostic imaging / Q000235:genetics*; D005190:Family; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D028061:Phosphate Transport Proteins / Q000235:genetics*; D011859:Radiography
C498770:ANKH protein, human; D028061:Phosphate Transport Proteins