A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma

Br J Dermatol. 2015 Jan;172(1):262-4. doi: 10.1111/bjd.13361. Epub 2014 Dec 9.

Authors

V A Kinsler¹, S Drury, A Khan, R Waelchli, G Rukaite, A Barnicoat, N Lench, J I Harper, R F L O'Shaughnessy

Affiliation

¹ Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford St, London, WC1N 1EJ, U.K; Paediatric Dermatology, Great Ormond St Hospital for Children, London, U.K.

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Child
Female
Frameshift Mutation / genetics*
Gene Deletion*
Humans
Ichthyosiform Erythroderma, Congenital / genetics
Male
Membrane Proteins / genetics*
Proto-Oncogene Proteins c-mdm2 / genetics
Skin Diseases, Genetic / genetics*

Substances

Membrane Proteins
loricrin
MDM2 protein, human
Proto-Oncogene Proteins c-mdm2

Supplementary concepts

Vohwinkel Syndrome, Variant Form