Pure Hair-Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum

    February 2026 in “ Pediatric Dermatology ”
    Apoorva Sharma, Anuradha Bishnoi
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    Research cited in this study 3

    1. Loss-Of-Function Mutations In HOXC13 Cause Pure Hair And Nail Ectodermal Dysplasia The American Journal of Human Genetics · 2012
    2. Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia Linked to Chromosome 12p11.1-q14.3 Without KRTHB5 Gene Mutation European Journal of Dermatology · 2010
    3. A Mutation in the Hair Matrix and Cuticle Keratin KRTHB5 Gene Causes Ectodermal Dysplasia of Hair and Nail Type Journal of Medical Genetics · 2006