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

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research Loss-Of-Function Mutations In HOXC13 Cause Pure Hair And Nail Ectodermal Dysplasia

74 citations , October 2012 in “The American Journal of Human Genetics”

Mutations in the HOXC13 gene cause hair and nail development issues.

research Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia Linked to Chromosome 12p11.1-q14.3 Without KRTHB5 Gene Mutation

11 citations , July 2010 in “European Journal of Dermatology”

The condition is linked to chromosome 12, but no mutations were found in the known genes.

research A Mutation in the Hair Matrix and Cuticle Keratin KRTHB5 Gene Causes Ectodermal Dysplasia of Hair and Nail Type

60 citations , March 2006 in “Journal of Medical Genetics”

A mutation in the KRTHB5 gene causes hair and nail issues.