Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability Within a Pakistani Family

    March 2007 in “ ˜The œjournal of investigative dermatology/Journal of investigative dermatology ”
    Muhammad Wajid, Hisham Bazzi, J. Rockey … Angela M. Christiano
    Studysummary The researchers identified a specific mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis, which presents with variable hair loss severity in affected individuals from a large Pakistani family.
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    Research cited in this study 9

    1. More Than One Gene Involved in Monilethrix: Intracellular but Also Extracellular Players Journal of Investigative Dermatology · 2006
    2. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006
    3. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006
    4. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2006
    5. A Missense Mutation in the Cadherin Interaction Site of the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2005
    6. Intragenic Deletion in the Desmoglein 4 Gene Underlies the Skin Phenotype in the Iffa Credo Hairless Rat Differentiation · 2004
    7. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004
    8. The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene Genomics · 2004
    9. Lanceolate Hair-J (LahJ): A Mouse Model for Human Hair Disorders Experimental dermatology · 2000