Genotype–Phenotype Correlations of Nance–Horan Syndrome in Male and Female Carriers of a Novel Variant
This reinforces the importance of genetic testing of bilateral familial pediatric cataracts, especially since systemic features such as dental anomalies and intellectual disability may take years before they develop. Not only did genetic testing help to identify extraocular features, but it also made possible accurate family counseling essential in all pediatric cataract cases.
Authors
- Adriana Bastos Carvalho (ORCID: https://orcid.org/0000-0002-7830-7868)
- Andréa Zin (ORCID: https://orcid.org/0000-0001-7677-0034)
- Jocieli Malacarne (ORCID: https://orcid.org/0000-0002-9845-1752)
- Daltro Castelar de Almeida Júnior (ORCID: https://orcid.org/0000-0001-6598-5806)
- Juliana Maria Ferraz Sallum (ORCID: https://orcid.org/0000-0002-7206-4447)
- Daniela P. Cunha (ORCID: https://orcid.org/0000-0002-5954-6054)
- Fabiana Louise Motta (ORCID: https://orcid.org/0000-0003-2230-995X)
- Luiza M. Neves (ORCID: https://orcid.org/0000-0002-2305-2853)
- Zilton Vasconcelos (ORCID: https://orcid.org/0000-0002-2193-2224)
- Dafne Dain Gandelman Horovitz (ORCID: https://orcid.org/0000-0001-7726-4301)
- M. L. P. Tinoco
- Bruna N. S. Agonigi
- Ana Paula dos Santos Rodrigues (ORCID: https://orcid.org/0000-0002-0447-898X)
- Olívia A. Zin (ORCID: https://orcid.org/0000-0002-7704-3450)
- Gabriela D. Rodrigues
Institutions
- Universidade do Estado do Rio de Janeiro (BR)
- Instituto Nacional de Cardiologia (BR)
- Instituto Brasiliense de Otorrinolaringologia (BR)
- Fundação Oswaldo Cruz (BR)
- Universidade Federal de São Paulo (BR)
Publication Details
- Journal
- Genes
- Published
- 2025-01-16
- DOI
- https://doi.org/10.3390/genes16010091
- Citations
- 1
- Primary Topic
- Connexins and lens biology
- Type
- article
- Field-Weighted Citation Impact
- 0.81