The detail information of Bardet-Biedl syndrome 4
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: 2017
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB197 | Hungarian Puli | 43.2 cm (male), 40.6 cm (female) | 11.3-15.9 kg | Hungary |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| BBS4 | Bardet-Biedl syndrome 4 | Canis lupus familiaris | Chr- : - - - | 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.
| 2017 |
Chew,T.,Haase,B.,Bathgate,R.,Willet,C.E.,Kaukonen,M.K.,Mascord,L.J.,Lohi,H.T.,Wade,C.M.: :
BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. G3 (Bethesda) 7:2327-2335, 2017. Pubmed reference: 28533336 . DOI: 10.1534/g3.117.043109 . |
| 2017 |
Chew,T.,Haase,B.,Willet,C.E.,Wade,C.M.: :
Exclusion of known progressive retinal atrophy genes for blindness in the Hungarian Puli. Anim Genet :, 2017. Pubmed reference: 28378943 . DOI: 10.1111/age.12553 . |