Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome
Open Access
- 1 December 2001
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 69 (6) , 1210-1217
- https://doi.org/10.1086/324591
Abstract
No abstract availableKeywords
This publication has 31 references indexed in Scilit:
- Atypical Forms of Incontinentia Pigmenti in Male Individuals Result from Mutations of a Cytosine Tract in Exon 10 of NEMO (IKK-γ)American Journal of Human Genetics, 2001
- X‐inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisationClinical Genetics, 1999
- Complementation Cloning of NEMO, a Component of the IκB Kinase Complex Essential for NF-κB ActivationCell, 1998
- Male cases of incontinentia pigmenti: Case report and reviewAmerican Journal of Medical Genetics, 1998
- Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2Human Molecular Genetics, 1996
- Gonadal mosaicism for incontinentia pigmenti in a healthy male.Journal of Medical Genetics, 1995
- Incontinentia pigmenti: XXY male with a family historyClinical Genetics, 1990
- Incontinentia pigmenti in a male infant with Klinefelter syndromeJournal of the American Academy of Dermatology, 1989
- Incontinentia pigmenti in a boy with Klinefelter's syndrome.Journal of Medical Genetics, 1987