Incontinentia pigmenti in a newborn with a novel nonsense mutation in the NEMO gene
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2006.07649.x/fullpdf
Reference6 articles.
1. Some, but Not All, Glycine Substitution Mutations inCOL7A1 Result in Intracellular Accumulation of Collagen VII, Loss of Anchoring Fibrils, and Skin Blistering
2. Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti
3. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes
4. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF- B activation
5. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations
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1. NEMO Gene Mutations in Two Chinese Females with Incontinentia Pigmenti;Clinical, Cosmetic and Investigational Dermatology;2022-05
2. Incontinentia pigmenti revisited. A novel nonsense mutation of the IKBKG gene;Acta Paediatrica;2010-06-25
3. NEMO Gene Mutations in Chinese Patients With Incontinentia Pigmenti;Journal of the Formosan Medical Association;2010-03
4. Vaccination as a Probable Cause of Incontinentia Pigmenti Reactivation;Pediatric Dermatology;2010-01
5. Basic Principles of Genetics and Gene Therapy;Therapy of Skin Diseases;2010
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