The detail information of Ehlers-Danlos syndrome, type VII (Dermatosparaxis)
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2019
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
There are associated breeds.
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| ADAMTS2 | ADAM metallopeptidase with thrombospondin type 1 motif, 2 | Canis lupus familiaris | Chr11 : 2257166 - 2480747 | Homologene, Ensembl, NCBI gene |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2019 |
Jaffey,J.A.,Bullock,G.,Teplin,E.,Guo,J.,Villani,N.A.,Mhlanga-Mutangadura,T.,Schnabel,R.D.,Cohn,L.A.,Johnson,G.S.,Jaffey,J.A.,Bullock,G.,Teplin,E.,Guo,J.,Villani,N.A.,Mhlanga-Mutangadura,T.,Schnabel,R.D.,Cohn,L.A.,Johnson,G.S.: :
A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility. Anim Genet 50:543-545, 2019. Pubmed reference: 31294848 . DOI: 10.1111/age.12825 . |