title: A new case of keratin 14 functional knockout causes severe recessive EBS and questions the haploinsufficiency model of Naegeli-Franceschetti-Jadassohn syndrome.
authors: Matthias
authors: M
authors: Titeux
authors: Audrey
authors: A
authors: Décha
authors: Nathalie
authors: N
authors: Pironon
authors: Laure
authors: L
authors: Tonasso
authors: Géraldine
authors: G
authors: Gasc
authors: José Enrique
authors: JE
authors: Mejía
authors: Catherine
authors: C
authors: Prost-Squarcioni
authors: Alain
authors: A
authors: Hovnanian
mesh_terms: D000328:Adult; D000483:Alleles; D001706:Biopsy; D004476:Ectodermal Dysplasia / Q000235:genetics*; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005192:Family Health; D057895:Haploinsufficiency; D006801:Humans; D007007:Hypohidrosis / Q000235:genetics*; D053547:Keratin-14 / Q000235:genetics*; D053569:Keratin-15 / Q000235:genetics; D053555:Keratin-5 / Q000235:genetics; D015603:Keratinocytes / Q000166:cytology; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D010375:Pedigree
chemical_list: D053547:Keratin-14; D053569:Keratin-15; D053555:Keratin-5