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.