Identification of Genes Involved in Inherited Ectodermal Dysplasias

January 2008

Naeem Riaz Muhammad

ectodermal dysplasias autosomal recessive hair-nail ED hypohidrotic ED KRTHB5 gene chromosome 12 chromosome 17 EDAR gene

Studysummary This study identified novel mutations associated with ectodermal dysplasias in Pakistani families, including a missense mutation in the KRTHB5 gene linked to pure hair-nail ectodermal dysplasias and mutations in the EDAR gene related to hypohidrotic ectodermal dysplasia.

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