Zonana, J

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