Incontinentia pigmenti in a newborn with a novel nonsense mutation in the NEMO gene.
Has
C
C
Danescu
S
S
Volz
A
A
Nöh
F
F
Technau
K
K
Bruckner-Tuderman
L
L
D018389:Codon, Nonsense / Q000009:adverse effects / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics*; D007184:Incontinentia Pigmenti / Q000235:genetics*; D007231:Infant, Newborn
D018389:Codon, Nonsense; C491731:IKBKG protein, human; D051550:I-kappa B Kinase