Browsing by Author "Vinciguerra A."
Now showing items 1-3 of 3
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A c.3037G>a mutation in FBN1 gene causing marfan syndrome with an atypically severe phenotype
Callea M.; Willoughby C.E.; Camarata-Scalisi F.; Giovannoni I.; Vinciguerra A.; Yavuz I.; Di Stazio M. (Instituto de Investigaciones Clinicas, 2017)Marfan syndrome is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located on chromosome 15q21.1 and encoding fibrillin 1. We report ... -
A case of Beckwith- Wiedemann syndrome with peculiar dental findings
Callea M.; Yavuz I.; Clarich G.; Gunay A.; Vinciguerra A.; Unal M.; Sahbaz C. (Ariesdue Srl, 2016)Background Beckwith-Wiedemann syndrome (BWS, OMIM 130650) is a rare genetic disorder characterised by overgrowth, tumor predisposition and congenital malformations. Few systemic manifestations and oral features have been ... -
Dental phenotype in a patient with hypoidrotic ectodermal dysplasia and severe immunodeficiency
Ectodermal dysplasia is a rare disease which affects at least two ectoderm-derived structures such as hair, nails, skin, sweat glands and teeth. The dentition is altered in number and shape. A 14-year-old male patient with ...
