A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

J Musculoskelet Neuronal Interact. 2007 Oct-Dec;7(4):318-9.

Authors

S Ichikawa¹, E A Imel, M L Kreiter, X Yu, D S Mackenzie, A H Sorenson, R Goetz, M Mohammadi, K E White, M J Econs

Affiliation

¹ Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA. [email protected]

PMID: 18094491

No abstract available

Publication types

Case Reports

MeSH terms

Adolescent
Calcinosis / genetics*
Calcinosis / metabolism
Calcinosis / physiopathology
Catalytic Domain / genetics
Chromosome Mapping
DNA Mutational Analysis
Female
Fibroblast Growth Factor-23
Fibroblast Growth Factors / genetics
Genetic Predisposition to Disease / genetics*
Glucuronidase / genetics*
Glucuronidase / metabolism
Homozygote
Humans
Hyperphosphatemia / genetics*
Hyperphosphatemia / metabolism
Hyperphosphatemia / physiopathology
Klotho Proteins
Mutation, Missense / genetics*
N-Acetylgalactosaminyltransferases / genetics
Phosphates / metabolism
Polypeptide N-acetylgalactosaminyltransferase
Protein Binding / genetics
Receptors, Fibroblast Growth Factor / metabolism
Vitamin D / metabolism

Substances

Phosphates
Receptors, Fibroblast Growth Factor
Vitamin D
Fibroblast Growth Factors
Fibroblast Growth Factor-23
N-Acetylgalactosaminyltransferases
Glucuronidase
Klotho Proteins