title: Diagnostic and molecular genetic challenges in male incontinentia pigmenti: a case report.
authors.affiliation: Department of Clinical Genetics, Aarhus University Hospital, Brendstrupgårdsvej 21C, DK-8200 Aarhus, Denmark.
authors.forename: Pernille A
authors.initials: PA
authors.lastname: Gregersen
authors.forename: Mette
authors.initials: M
authors.lastname: Sommerlund
authors.forename: Mette
authors.initials: M
authors.lastname: Ramsing
authors.forename: Hans
authors.initials: H
authors.lastname: Gjørup
authors.forename: Anders A
authors.initials: AA
authors.lastname: Rasmussen
authors.forename: Anni
authors.initials: A
authors.lastname: Aggerholm
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D042241:Early Diagnosis; D020022:Genetic Predisposition to Disease; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics*; D007184:Incontinentia Pigmenti / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000628:therapy; D008297:Male; D009030:Mosaicism; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D012867:Skin / Q000473:pathology*
chemical_list: C491731:IKBKG protein, human; D051550:I-kappa B Kinase