Clinical diagnosis of incontinentia pigmenti in a cohort of male patients (Articolo in rivista)

Type
Label
  • Clinical diagnosis of incontinentia pigmenti in a cohort of male patients (Articolo in rivista) (literal)
Anno
  • 2007-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1016/j.jaad.2006.09.019 (literal)
Alternative label
  • Fusco F.; Fimiani G.; Tadini G.; Michele D.; Ursini M.V. (2007)
    Clinical diagnosis of incontinentia pigmenti in a cohort of male patients
    in Journal of the American Academy of Dermatology
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Fusco F.; Fimiani G.; Tadini G.; Michele D.; Ursini M.V. (literal)
Pagina inizio
  • 264 (literal)
Pagina fine
  • 267 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 56 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 2 (literal)
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  • Pubblicazione (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • CNR, IGB, Inst Genet & Biophys Adriano Buzzati Traverso, I-80125 Naples, Italy Univ Milan, Milan, Italy (literal)
Titolo
  • Clinical diagnosis of incontinentia pigmenti in a cohort of male patients (literal)
Abstract
  • Eighteen male patients with incontinentia pigmenti (IP) showed the characteristic clinical features and, when examined, histologic skin defects observed in female patients with IP. Six of the patients had neurologic, ophthalmologic, or dental manifestations as well. Three patients showed evidence by polymerase chain reaction analysis of both the normal NEMO gene and the exon 4-10 deletion in NEMO that occurs in the majority of affected girls with IP, confirming postzygotic mosaicism for the NEMO gene. (literal)
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