title: Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis.
authors.forename: A
authors.initials: A
authors.lastname: Haghighi
authors.forename: P
authors.initials: P
authors.lastname: Nikuei
authors.forename: H
authors.initials: H
authors.lastname: Haghighi-Kakhki
authors.forename: N
authors.initials: N
authors.lastname: Saleh-Gohari
authors.forename: S
authors.initials: S
authors.lastname: Baghestani
authors.forename: P M
authors.initials: PM
authors.lastname: Krawitz
authors.forename: J
authors.initials: J
authors.lastname: Hecht
authors.forename: S
authors.initials: S
authors.lastname: Mundlos
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D001941:Breast Diseases / Q000235:genetics*; D003241:Consanguinity; D053360:Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / Q000235:genetics*; D053339:Edar Receptor / Q000235:genetics*; D059472:Exome / Q000235:genetics; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D053339:Edar Receptor