An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
- 1 June 2006
- journal article
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 126 (6), 1292-1296
- https://doi.org/10.1038/sj.jid.5700251
Abstract
No abstract availableKeywords
This publication has 18 references indexed in Scilit:
- A missense mutation in the type II hair keratin hHb3 is associated with monilethrixJournal of Medical Genetics, 2005
- A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive HypotrichosisJournal of Investigative Dermatology, 2004
- A Recurrent Intragenic Deletion Mutation in DSG4 Gene in Three Pakistani Families with Autosomal Recessive HypotrichosisJournal of Investigative Dermatology, 2004
- The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 geneGenomics, 2004
- De novo mutations in monilethrixExperimental Dermatology, 2003
- Desmoglein 4 in Hair Follicle Differentiation and Epidermal AdhesionCell, 2003
- Lanceolate hair-J (lahJ
): A mouse model for human hair disordersExperimental Dermatology, 2000
- Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6Human Heredity, 2000
- Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrixNature Genetics, 1997
- Evidence for Genetic Heterogeneity in MonilethrixJournal of Investigative Dermatology, 1996