Document Detail


Clinical diagnosis of incontinentia pigmenti in a cohort of male patients.
MedLine Citation:
PMID:  17224368     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Francesca Fusco; Giorgia Fimiani; Gianluca Tadini; D'Urso Michele; Matilde Valeria Ursini
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2006-11-07
Journal Detail:
Title:  Journal of the American Academy of Dermatology     Volume:  56     ISSN:  1097-6787     ISO Abbreviation:  J. Am. Acad. Dermatol.     Publication Date:  2007 Feb 
Date Detail:
Created Date:  2007-01-16     Completed Date:  2007-02-06     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7907132     Medline TA:  J Am Acad Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  264-7     Citation Subset:  IM    
Affiliation:
Institute of Genetics and Biophysics Adriano Buzzati-Traverso (IGB-CNR), Naples, Italy.
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MeSH Terms
Descriptor/Qualifier:
Adult
Child
Child, Preschool
DNA Mutational Analysis
Humans
I-kappa B Kinase / genetics
Incontinentia Pigmenti / diagnosis*,  genetics
Infant
Male
Polymerase Chain Reaction
Chemical
Reg. No./Substance:
0/IKBKG protein, human; EC 2.7.11.10/I-kappa B Kinase

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