Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome - Kenwrick, S; Woffendin, H; Jakins, T; Shuttleworth, S G; Mayer, E; Greenhalgh, L; Whittaker, J; Rugolotto, S; Bardaro, T; Esposito, T; D'Urso, M; Soli, F; et al. (American journal of human genetics, 2001)
Keywords: Alleles; Biological and medical sciences; Child; Child, Preschool; Dermatology; Dosage Compensation, Genetic; Female; Genes, Lethal - genetics; Humans; I-kappa B Kinase; Incontinentia Pigmenti - genetics; Incontinentia Pigmenti - pathology; Infant; Infant, Newborn; Karyotyping; Klinefelter Syndrome - genetics; Male; Medical sciences; Meiosis - genetics; Mosaicism - genetics; Pedigree; Pigmentary diseases of the skin; Polymerase Chain Reaction; Protein Serine-Threonine Kinases - genetics; Sequence Deletion - genetics; Survival Rate; Chromosomal aberration; Endocrinopathy; Klinefelter syndrome; Sex linked character; Skin disease; Relapse; Prognosis; Aneuploidy; Male; Supernumerary X chromosome; Inactivation; Essential; Characterization; Hair (head); Exon; Gene; Deletion; Dominant character; X-Chromosome; Male genital diseases; Human; Hair; Immunopathology; Nervous system diseases; Pigmentation disorder; Incontinentia pigmenti; Stomatology; Dental disease; Teeth; Sexual differentiation disorder; Recurrent; Congenital disease; In utero; Survival; Genetic disease; Ectodermal dysplasia; Eye disease; Malformation; Cytogenetics; Abnormal chromosome; Mosaicism; Mutation; Sweat gland disease