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Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.

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Messaoud, O. | Ben Rekaya, M. | Kefi, R. | Chebel, S. | Boughammoura-Bouatay, A. | Bel Hadj Ali, H. | Gouider-Khouja, N. | Zili, J. | Frih-Ayed, M. | Mokhtar, I. | Abdelhak, S. | Zghal, M.

Edité par CCSD ; Wiley -

International audience. 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.

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