Predominant neurological phenotype in a Hungarian family with two novel mutations in the XPA gene—case series

OBJECTIVE: The prevalence of xeroderma pigmentosum (XP) is quite low in Europe, which may result in a delay in determining the appropriate diagnosis. Furthermore, some subtypes of XP, including XPA, may manifest themselves with quite severe neurological symptoms in addition to the characteristic der...

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Detalles Bibliográficos
Autores principales: Zádori, Dénes, Szpisjak, László, Németh, István Balázs, Reisz, Zita, Kovacs, Gabor G., Szépfalusi, Noémi, Németh, Viola Luca, Maróti, Zoltán, Tóth-Molnár, Edit, Oláh, Judit, Vécsei, László, Klivényi, Péter, Kalmár, Tibor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6940312/
https://www.ncbi.nlm.nih.gov/pubmed/31478152
http://dx.doi.org/10.1007/s10072-019-04044-6

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