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Journal articles
Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.
Abstract : Xeroderma pigmentosum (XP) is a rare genodermatosis predisposing to skin cancers. The disease is classified into eight groups. Among them, XP group A (XP-A) is characterized by the presence of neurological abnormalities in addition to cutaneous symptoms. In the present study, we report a particular family with XP-A in which some members showed an atypical clinical presentation, i.e. unexplained neurological abnormalities with discrete skin manifestations. Molecular investigation allowed identification of a novel XPA mutation and complete phenotype-genotype correlation for this new phenotypic expression of XP-A.
https://hal-riip.archives-ouvertes.fr/pasteur-00612157
Contributor : Institut Pasteur Tunis Connect in order to contact the contributor
Submitted on : Thursday, July 28, 2011 - 11:27:25 AM
Last modification on : Friday, October 23, 2020 - 4:50:03 PM
Contributor : Institut Pasteur Tunis Connect in order to contact the contributor
Submitted on : Thursday, July 28, 2011 - 11:27:25 AM
Last modification on : Friday, October 23, 2020 - 4:50:03 PM
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