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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Greenhaw, G A, Hebert, A, Duke-Woodside, M E, Butler, I J, Hecht, J T, Cleaver, J E, Thomas, G H, Horton, W A
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1992
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682634/
https://ncbi.nlm.nih.gov/pubmed/1372469
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia