Variant: rs121908452 

    present in Gene: EDAR;RANBP2
    present in Chromosome: 2
    Position on Chromosome: 108897182
    Alleles of this Variant: G/A

rs121908452 in EDAR;RANBP2 gene and ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE PMID 27305980 2016 Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.

PMID 26336973 2015 Hair shaft structures in EDAR induced ectodermal dysplasia.

PMID 17125505 2006 EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.

PMID 10431241 1999 Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.

PMID 24884697 2014 EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation.