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
There are no associated genes.
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 .