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

July 2010 in “ European Journal of Dermatology ”

Mahmood Rasool, Sadia Nawaz, Aysha Azhar, Muhammad Wajid, Per Westermark, Shahid Mahmood Baig, Joakim Klar, Niklas Dahl

autosomal recessive hair-nail ectodermal dysplasia ectodermal dysplasia chromosome 12 KRTHB5 keratin II genes

Studysummary In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.

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