X-Linked Hypohidrotic Ectodermal Dysplasia (XL-HED; MIM305100) is characterized by hypodontia, misshaped teeth, hypo-hidrosis, sparse hair, peculiar facial features and occurs in less than 1 in every 100.000 individuals. XL-HED is caused by mutations in the Ectodysplasin-A (EDA) gene located at Xq12-q13 with more than 100 causative mutations reported to date. The identification of disease-causing mutations confirms the diagnosis, however, does not automatically imply a genotype– phenotype correlation. We identified an Italian family with XL-HED resulting from a novel mutation

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, SABRINA RITA; Sani, I.; Maglione, M.; Pensiero, S.; Tadini, G.; Bellacchio, E.. - In: JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY. - ISSN 0926-9959. - ELETTRONICO. - 30:(2016), pp. 341-343. [10.1111/jdv.12747]

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

GIGLIO, SABRINA RITA;
2016

Abstract

X-Linked Hypohidrotic Ectodermal Dysplasia (XL-HED; MIM305100) is characterized by hypodontia, misshaped teeth, hypo-hidrosis, sparse hair, peculiar facial features and occurs in less than 1 in every 100.000 individuals. XL-HED is caused by mutations in the Ectodysplasin-A (EDA) gene located at Xq12-q13 with more than 100 causative mutations reported to date. The identification of disease-causing mutations confirms the diagnosis, however, does not automatically imply a genotype– phenotype correlation. We identified an Italian family with XL-HED resulting from a novel mutation
2016
30
341
343
Callea, M.; Nieminen, P.; Willoughby, C. E.; Clarich, G.; Yavuz, I.; Vinciguerra, A.; Di Stazio, M.; Giglio, SABRINA RITA; Sani, I.; Maglione, M.; Pen...espandi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/930935
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