Atrichia With Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review

    January 2013 in “ Dermatology ”
    Shuang Wang, Chen‐Pei D. Tu, Yuandong Feng … Shengxiang Xiao
    Studysummary This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.
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    Research cited in this study 14

    1. Congenital Atrichia With Papular Lesions Resulting From Novel Mutations in Human Hairless Gene in Four Consanguineous Families The Journal of Dermatology · 2011
    2. Detection of a Novel Missense Mutation in Atrichia with Papular Lesions Annals of Dermatology · 2011
    3. Atrichia with Papular Lesions in a Taiwanese Patient Without Hairless (HR) Gene Mutation Dermatologica Sinica · 2010
    4. Atrichia With Papular Lesions Resulting From a Novel Insertion Mutation in the Human Hairless Gene Clinical and Experimental Dermatology · 2006
    5. Atrichia With Papular Lesions in Two Pakistani Consanguineous Families Resulting From Mutations in the Human Hairless Gene Archives of Dermatological Research · 2005
    6. Hair Follicle Differentiation And Regulation The International Journal of Developmental Biology · 2004
    7. Atrichia With Papular Lesions Resulting From a Novel Homozygous Missense Mutation in the Hairless Gene Clinical and Experimental Dermatology · 2003
    8. Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions Journal of Investigative Dermatology · 2003
    9. A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia Journal of Investigative Dermatology · 2002
    10. Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions Journal of Investigative Dermatology · 2002
    11. The Hairless Gene Mutated in Congenital Hair Loss Disorders Encodes a Novel Nuclear Receptor Corepressor Genes & Development · 2001
    12. Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia Journal of Investigative Dermatology · 1999
    13. Pathobiology of the Hairless Phenotype: Dysregulation of Hair Follicle Apoptosis and Topobiology During the Initiation of Follicle Cycling Journal of Dermatological Science · 1998
    14. Alopecia Universalis Associated With a Mutation in the Human Hairless Gene Science · 1998