Condition: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related


rs111033589 in DHH;LOC105369759 gene and 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related PMID 15356051 2004 Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis.

rs1480612338 in LOC105369759;DHH gene and 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related PMID 30298535 2018 In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.