Detalhe da pesquisa
1.
Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia.
J Med Genet
; 59(5): 428-437, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33782094
2.
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Hum Genet
; 138(8-9): 1027-1042, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-29464339
3.
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
Front Genet
; 9: 479, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30386378