TY  - GEN
AU  - Zonana,J
AU  - Elder,M E
AU  - Schneider,L C
AU  - Orlow,S J
AU  - Moss,C
AU  - Golabi,M
AU  - Shapira,S K
AU  - Farndon,P A
AU  - Wara,D W
AU  - Emmal,S A
AU  - Ferguson,B M
TI  - 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)
SN  - 0002-9297
PY  - 2001///0118
KW  - Adolescent
KW  - Alleles
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Ectodermal Dysplasia
KW  - complications
KW  - Exons
KW  - genetics
KW  - Female
KW  - Genes, Recessive
KW  - Genetic Linkage
KW  - Humans
KW  - I-kappa B Kinase
KW  - Immunologic Deficiency Syndromes
KW  - Incontinentia Pigmenti
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Mutation
KW  - NF-kappa B
KW  - physiology
KW  - Pedigree
KW  - Protein Serine-Threonine Kinases
KW  - chemistry
KW  - Protein Structure, Tertiary
KW  - X Chromosome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1086/316914
ER  -