A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets

Br J Dermatol. 2008 Jan;158(1):168-71. doi: 10.1111/j.1365-2133.2007.08232.x. Epub 2007 Oct 26.

Authors

K Arita¹, A Nanda, V Wessagowit, M Akiyama, Q A Alsaleh, J A McGrath

Affiliation

¹ Genetic Skin Disease Group, St John's Institute of Dermatology, Division of Genetics and Molecular Medicine, The Guy's, King's College and St Thomas' School of Medicine, London, UK. [email protected]

PMID: 17970811
DOI: 10.1111/j.1365-2133.2007.08232.x

No abstract available

Publication types

Case Reports

MeSH terms

Alopecia / genetics
Child
DNA Mutational Analysis / methods
Databases, Genetic
Deafness / genetics
Familial Hypophosphatemic Rickets / genetics*
Humans
Male
Mutation, Missense*
Pedigree
Receptors, Calcitriol / genetics*
Skin Diseases, Genetic / genetics*

Substances

Receptors, Calcitriol