Hypomorphic alleles within theEBPgene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference3 articles.
1. Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hünermann-Happle syndrome and a mutation in EBP;Milunsky;Am J Med Genet,2003
2. The NF-kappaB signalling pathway in human diseases: From incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes;Smahi;Hum Mol Genet,2002
3. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO);Zonana;Am J Hum Genet,2000
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