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Öğe A case of Beckwith-Wiedemann syndrome with peculiar dental findings(Ariesdue Srl, 2016) Callea, M.; Yavuz, I.; Clarich, G.; Gunay, A.; Vinciguerra, A.; Unal, M.; Sahbaz, C.Background Beckwith-Wiedemann syndrome (BINS, OMIM 130650) is a rare genetic disorder characterised by overgrowth, tumor predisposition and congenital malformations. Few systemic manifestations and oral features have been reported so far. Case report We report on a case of BWS, describing all features expanding the knowledge on oro-dentofacial phenotypes, along with a review of the literature.Öğe A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family(Wiley-Blackwell, 2016) Callea, M.; Nieminen, P.; Willoughby, C. E.; Clarich, G.; Yavuz, I.; Vinciguerra, A.; Di Stazio, M.[Abstract Not Available]
