| Literature DB >> 17224368 |
Francesca Fusco1, Giorgia Fimiani, Gianluca Tadini, D'Urso Michele, Matilde Valeria Ursini.
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.Entities:
Mesh：
Substances：
Year: 2006 PMID： 17224368 DOI： 10.1016/j.jaad.2006.09.019
Source DB: PubMed Journal: J Am Acad Dermatol ISSN： 0190-9622 Impact factor: 11.527