title: A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma.
authors.affiliation: 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.
authors.forename: V A
authors.initials: VA
authors.lastname: Kinsler
authors.forename: S
authors.initials: S
authors.lastname: Drury
authors.forename: A
authors.initials: A
authors.lastname: Khan
authors.forename: R
authors.initials: R
authors.lastname: Waelchli
authors.forename: G
authors.initials: G
authors.lastname: Rukaite
authors.forename: A
authors.initials: A
authors.lastname: Barnicoat
authors.forename: N
authors.initials: N
authors.lastname: Lench
authors.forename: J I
authors.initials: JI
authors.lastname: Harper
authors.forename: R F L
authors.initials: RF
authors.lastname: O'Shaughnessy
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D051736:Proto-Oncogene Proteins c-mdm2 / Q000235:genetics; D012873:Skin Diseases, Genetic / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C064554:loricrin; C497206:MDM2 protein, human; D051736:Proto-Oncogene Proteins c-mdm2