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). [electronic resource]
- American journal of human genetics Dec 2000
- 1555-62 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0002-9297
10.1086/316914 doi
Adolescent Alleles Base Sequence Child Child, Preschool DNA Mutational Analysis Ectodermal Dysplasia--complications Exons--genetics Female Genes, Recessive--genetics Genetic Linkage--genetics Humans I-kappa B Kinase Immunologic Deficiency Syndromes--complications Incontinentia Pigmenti--genetics Infant Infant, Newborn Male Mutation--genetics NF-kappa B--physiology Pedigree Protein Serine-Threonine Kinases--chemistry Protein Structure, Tertiary X Chromosome--genetics