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

    October 2012 in “ The American Journal of Human Genetics ”
    Zhimiao Lin, Quan Chen, Lei Shi … Yong Yang
    Studysummary This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
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    Research cited in this study 17

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    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
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    4. Desmoglein 4 Is Regulated by Transcription Factors Implicated in Hair Shaft Differentiation Differentiation · 2009
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