Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.

Two siblings are described whose clinical presentation of cutaneous photosensitivity and central nervous system dysfunction is strongly reminiscent of the DeSanctis-Cacchione syndrome (DCS) variant of xeroderma pigmentosum. An extensive clinical evaluation supported a diagnosis of DCS and documented...

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Detalles Bibliográficos
Main Authors: Greenhaw, G A, Hebert, A, Duke-Woodside, M E, Butler, I J, Hecht, J T, Cleaver, J E, Thomas, G H, Horton, W A
Formato: Artigo
Idioma:Inglês
Publicado: 1992
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682634/
https://ncbi.nlm.nih.gov/pubmed/1372469
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