Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis

MeSH terms

• Adolescent
• Amino Acid Sequence
• Base Sequence
• Breast Diseases / genetics*
• Consanguinity
• Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / genetics*
• Edar Receptor / genetics*
• Exome / genetics
• Female
• Humans
• Keratoderma, Palmoplantar / genetics*
• Male
• Molecular Sequence Data
• Mutation, Missense / genetics*
• Pedigree
• Sequence Analysis, DNA