Autosomal Recessive Monilethrix: Novel Variants of the DSG4 Gene in Three Chinese Families

    February 2022 in “ Molecular genetics & genomic medicine ”
    Cheng Zhou, Pei Wang, Dingquan Yang … Jianzhong Zhang
    Studysummary This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.
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    Research cited in this study 10

    1. Autosomal Recessive Monilethrix: Novel Variants of the DSG4 Gene in Three Chinese Families Molecular genetics & genomic medicine · 2022
    2. Novel D323G Mutation of DSG4 Gene in a Girl with Localized Autosomal Recessive Hypotrichosis Clinically Overlapped with Monilethrix International Journal of Dermatology · 2015
    3. A Case of Monilethrix Caused by Novel Compound Heterozygous Mutations in the Desmoglein 4 (DSG4) Gene British Journal of Dermatology · 2011
    4. Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability Within a Pakistani Family ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2007
    5. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006
    6. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006
    7. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2006
    8. A Missense Mutation in the Cadherin Interaction Site of the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2005
    9. A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix Journal of Medical Genetics · 2005
    10. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004

    Related research 1

    1. Role of Trichoscopy in Children's Scalp and Hair Disorders Pediatric Dermatology · 2013