Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation

Am J Med Genet A. 2009 Jun;149A(6):1331-3. doi: 10.1002/ajmg.a.32875.

Authors

Gareth Baynam¹, Jack Goldblatt, Lyn Schofield

Affiliation

¹ Genetic Services of Western Australia, Princess Margaret Hospital for Children, Western Australia, Australia. [email protected]

PMID: 19449425
DOI: 10.1002/ajmg.a.32875

No abstract available

MeSH terms

Adult
Chondrocalcinosis / diagnostic imaging
Chondrocalcinosis / genetics*
Family*
Humans
Infant
Male
Mutation*
Phosphate Transport Proteins / genetics*
Radiography

Substances

ANKH protein, human
Phosphate Transport Proteins