The detail information of Ehlers-Danlos syndrome, classic-like, 1
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 |
|---|---|---|---|---|
| TNXB | tenascin XB | Canis lupus familiaris | Chr12 : 1648746 - 1595038 | 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 |
Bauer,A.,deLucia,M.,Leuthard,F.,Jagannathan,V.,Leeb,T.,Bauer,A.,deLucia,M.,Leuthard,F.,Jagannathan,V.,Leeb,T.: :
Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome. Anim Genet 50:546-549, 2019. Pubmed reference: 31365140 . DOI: 10.1111/age.12830 . |