research Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia Linked to Chromosome 12p11.1-q14.3 Without KRTHB5 Gene Mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
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5 / 29 resultsresearch Identification of Genes Involved in Inherited Ectodermal Dysplasias
Mutations in specific genes cause different types of ectodermal dysplasias.
research A Mutation in the Hair Matrix and Cuticle Keratin KRTHB5 Gene Causes Ectodermal Dysplasia of Hair and Nail Type
A mutation in the KRTHB5 gene causes hair and nail issues.
research A Missense Mutation Within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research Loss-Of-Function Mutations In HOXC13 Cause Pure Hair And Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
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