The detail information of XY DSD (Disorder of Sexual Development), NR6A1-related
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: -
Considered a defect: yes
Year key mutation first reported: 2020
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.
2020 |
Nowacka-Woszuk,J.,Szczerbal,I.,Stachowiak,M.,Dzimira,S.,Nizanski,W.,Biezynski,J.,Nowak,T.,Gogulski,M.,Switonski,M.: :
Screening for structural variants of four candidate genes in dogs with disorders of sex development revealed the first case of a large deletion in NR5A1. Anim Reprod Sci 223:106632, 2020. Pubmed reference: 33128907 . DOI: 10.1016/j.anireprosci.2020.106632 . |