Condition: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
rs1558793621 in
EDAR;RANBP2 gene and
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
PMID 24641098 2015 Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.
PMID 23401279 2013 Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
rs121908116 in
EDARADD gene and
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
PMID 20979233 2011 Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
PMID 17354266 2007 Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.
rs1558793736 in
RANBP2;EDAR gene and
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
PMID 24641098 2015 Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.
PMID 23401279 2013 Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
PMID 10431241 1999 Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.
PMID 20979233 2011 Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.