The detail information of Eye malformation, congenital
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant with incomplete penetrance
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 |
|---|---|---|---|---|
| SIX6 | SIX homeobox 6 | Canis lupus familiaris | Chr8 : 35799002 - 35801808 | 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 |
Hug,P.,Anderegg,L.,Dürig,N.,Lepori,V.,Jagannathan,V.,Spiess,B.,Richter,M.,Leeb,T.,Hug,P.,Anderegg,L.,Dürig,N.,Lepori,V.,Jagannathan,V.,Spiess,B.,Richter,M.,Leeb,T.: :
A <i>SIX6</i> Nonsense Variant in Golden Retrievers with Congenital Eye Malformations. Genes (Basel) 10:, 2019. Pubmed reference: 31207931 . DOI: 10.3390/genes10060454 . |