title: A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family.
authors.affiliation: Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Callea
authors.affiliation: Department of Oral and Maxillofacial Diseases, University of Helsinki, Institute of Dentistry, Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: P
authors.initials: P
authors.lastname: Nieminen
authors.affiliation: Department of Eye and Vision Science, University of Liverpool, Institute of Ageing and Chronic Disease, Liverpool, UK.
authors.forename: C E
authors.initials: CE
authors.lastname: Willoughby
authors.affiliation: Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Clarich
authors.affiliation: Department of Pediatric Dentistry, Faculty of Dentistry, Dicle University, Diyarbakir, Turkey.
authors.forename: I
authors.initials: I
authors.lastname: Yavuz
authors.affiliation: Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Vinciguerra
authors.affiliation: Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Di Stazio
authors.affiliation: Medical Genetics Section, Department of Clinical Pathophysiology, University of Florence, Florence, Italy.|Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Giglio
authors.affiliation: Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Sani
authors.affiliation: Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Maglione
authors.affiliation: Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Pensiero
authors.affiliation: Fondazione IRCCS Cà Granda - Ospedale Maggiore Policlinico Milano, Milan, Italy.|Department of Pediatric Dermatology, University of Milan, Milan, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Tadini
authors.affiliation: Bambino Gesù Children's Hospital IRCCS, Research Laboratory, Rome, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Bellacchio
mesh_terms: D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D053331:Ectodysplasins / Q000235:genetics* / Q000378:metabolism; D005091:Exons; D005190:Family; D005260:Female; D006801:Humans; D054643:INDEL Mutation / Q000235:genetics*; D007558:Italy; D008297:Male; D010375:Pedigree; D010641:Phenotype
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins; D004247:DNA