title: Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.
authors.affiliation: Institute for Maternal and Child Health - IRCCS "Burlo Garofolo"- Trieste, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Callea
authors.forename: C E
authors.initials: CE
authors.lastname: Willoughby
authors.forename: P
authors.initials: P
authors.lastname: Nieminen
authors.forename: M
authors.initials: M
authors.lastname: Di Stazio
authors.forename: E
authors.initials: E
authors.lastname: Bellacchio
authors.forename: S
authors.initials: S
authors.lastname: Giglio
authors.forename: I
authors.initials: I
authors.lastname: Sani
authors.forename: A
authors.initials: A
authors.lastname: Vinciguerra
authors.forename: M
authors.initials: M
authors.lastname: Maglione
authors.forename: G
authors.initials: G
authors.lastname: Tadini
authors.forename: G
authors.initials: G
authors.lastname: Clarich
mesh_terms: D000328:Adult; D053359:Ectodermal Dysplasia 3, Anhidrotic / Q000235:genetics*; D053339:Edar Receptor / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype
chemical_list: C506008:EDAR protein, human; D053339:Edar Receptor