Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts

Congenital cataracts (CC) are responsible for approximately one-tenth of childhood blindness cases globally. Here, we report an African American family with a recessively inherited form of CC. The proband demonstrated decreased visual acuity and bilateral cataracts, with nuclear and cortical catarac...

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Detalles Bibliográficos
Autores principales: Hassan, Abdullah Y., Yousaf, Sairah, Levin, Moran R., Saeedi, Osamah J., Riazuddin, Saima, Alexander, Janet L., Ahmed, Zubair M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8745576/
https://www.ncbi.nlm.nih.gov/pubmed/35008666
http://dx.doi.org/10.3390/ijms23010240

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8745576/
https://www.ncbi.nlm.nih.gov/pubmed/35008666
http://dx.doi.org/10.3390/ijms23010240

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