| Entry |
|
| Name |
|
| Type |
Loss of function
|
| Gene |
|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
| Variation |
|
| Network |
|
| Disease |
| H00651 | Hypohidrotic ectodermal dysplasia |
|
| Reference |
|
| Authors |
van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ |
| Title |
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. |
| Journal |
|
| Reference |
|
| Authors |
Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J |
| Title |
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. |
| Journal |
|
| LinkDB |
|