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

J Eur Acad Dermatol Venereol. 2016 Feb;30(2):341-3. doi: 10.1111/jdv.12747. Epub 2014 Sep 30.

M Callea¹, P Nieminen², C E Willoughby³, G Clarich¹, I Yavuz⁴, A Vinciguerra¹, M Di Stazio⁵, S Giglio^{6

7}, I Sani⁷, M Maglione⁵, S Pensiero¹, G Tadini^{8

9}, E Bellacchio¹⁰

¹ Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.
² Department of Oral and Maxillofacial Diseases, University of Helsinki, Institute of Dentistry, Helsinki University Central Hospital, Helsinki, Finland.
³ Department of Eye and Vision Science, University of Liverpool, Institute of Ageing and Chronic Disease, Liverpool, UK.
⁴ Department of Pediatric Dentistry, Faculty of Dentistry, Dicle University, Diyarbakir, Turkey.
⁵ Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
⁶ Medical Genetics Section, Department of Clinical Pathophysiology, University of Florence, Florence, Italy.
⁷ Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
⁸ Fondazione IRCCS Cà Granda - Ospedale Maggiore Policlinico Milano, Milan, Italy.
⁹ Department of Pediatric Dermatology, University of Milan, Milan, Italy.
¹⁰ Bambino Gesù Children's Hospital IRCCS, Research Laboratory, Rome, Italy.

No abstract available

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