Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions

    March 2006 in “ Journal of Investigative Dermatology ”
    Julie V. Schaffer, Hisham Bazzi, Anna Vitebsky … Angela M. Christiano
    Studysummary Mutations in the DSG4 gene cause specific hair and scalp issues.
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    Research cited in this study 10

    1. A Missense Mutation in the Cadherin Interaction Site of the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2005
    2. Intragenic Deletion in the Desmoglein 4 Gene Underlies the Skin Phenotype in the Iffa Credo Hairless Rat Differentiation · 2004
    3. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004
    4. The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene Genomics · 2004
    5. De Novo Mutations in Monilethrix Experimental Dermatology · 2003
    6. Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy Journal of Investigative Dermatology · 2003
    7. Lanceolate Hair-J (LahJ): A Mouse Model for Human Hair Disorders Experimental dermatology · 2000
    8. Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype Journal of Investigative Dermatology · 1999
    9. Evidence for Genetic Heterogeneity in Monilethrix Journal of Investigative Dermatology · 1996
    10. Lanceolate Hair (Lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 1996

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