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 |
|