A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family.

Callea, M; Nieminen, P; Willoughby, C E; Clarich, G; Yavuz, I; Vinciguerra, A; Di Stazio, M; Giglio, S; Sani, I; Maglione, M; Pensiero, S; Tadini, G; Bellacchio, E

Callea, M; Nieminen, P; Willoughby, C E; Clarich, G; Yavuz, I; Vinciguerra, A; Di Stazio, M; Giglio, S; Sani, I; Maglione, M; Pensiero, S; Tadini, G; Bellacchio, E.

Affiliation

Callea M; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.
Nieminen P; Department of Oral and Maxillofacial Diseases, University of Helsinki, Institute of Dentistry, Helsinki University Central Hospital, Helsinki, Finland.
Willoughby CE; Department of Eye and Vision Science, University of Liverpool, Institute of Ageing and Chronic Disease, Liverpool, UK.
Clarich G; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.
Yavuz I; Department of Pediatric Dentistry, Faculty of Dentistry, Dicle University, Diyarbakir, Turkey.
Vinciguerra A; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.
Di Stazio M; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
Giglio S; Medical Genetics Section, Department of Clinical Pathophysiology, University of Florence, Florence, Italy.
Sani I; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
Maglione M; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
Pensiero S; Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
Tadini G; Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.
Bellacchio E; Fondazione IRCCS Cà Granda - Ospedale Maggiore Policlinico Milano, Milan, Italy.

J Eur Acad Dermatol Venereol ; 30(2): 341-3, 2016 Feb.

Article de En | MEDLINE | ID: mdl-25266272

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: ADN / Famille / Dysplasie ectodermique anhidrotique de type 1 / Ectodysplasines / Mutation de type INDEL Type d'étude: Diagnostic_studies Limites: Female / Humans / Male Pays/Région comme sujet: Europa Langue: En Journal: J Eur Acad Dermatol Venereol Sujet du journal: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Année: 2016 Type de document: Article Pays d'affiliation: Italie Pays de publication: Royaume-Uni

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