Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families

    February 2020 in “ ˜The œjournal of gene medicine ”
    Ghazanfar Ali, Naheed Bashir Awan, Sadia Sadia … Musharraf Jelani
    Studysummary This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
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    Research cited in this study 7

    1. Congenital Atrichia With Papular Lesions: A Rare Cause of Irreversible Childhood Alopecia Acta Dermatovenerologica Alpina Pannonica et Adriatica · 2018
    2. Disease Causing Homozygous Variants in the Human Hairless Gene International Journal of Dermatology · 2015
    3. Congenital Atrichia With Papular Lesions Indian Journal of Paediatric Dermatology · 2014
    4. Atrichia With Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review Dermatology · 2013
    5. Congenital Atrichia With Papular Lesions Resulting From Novel Mutations in Human Hairless Gene in Four Consanguineous Families The Journal of Dermatology · 2011
    6. Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (Hr^rh-R) in the Hairless Gene (Hr) Veterinary pathology · 2010
    7. Atrichia With Papular Lesions Resulting From a Novel Insertion Mutation in the Human Hairless Gene Clinical and Experimental Dermatology · 2006