Condition: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
rs74315309
in
EDARADD
gene and
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
PMID 20222921
2010 Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.
PMID 11780064
2002 Gene defect in ectodermal dysplasia implicates a death domain adapter in development.
PMID 17354266
2007 Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.