Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract

Hereditary congenital cataract (HCC) is clinically and genetically heterogeneous. We investigated HCC that segregates in three inbred families (LUCC03, LUCC16, and LUCC24). Ophthalmological examinations revealed cataracts with variability related to the age of onset segregating in a recessive manner...

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Detalles Bibliográficos
Autores principales: Jarwar, Priya, Sheikh, Shakeel Ahmed, Waryah, Yar Muhammad, Ujjan, Ikram Uddin, Riazuddin, Saima, Waryah, Ali Muhammad, 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/PMC8508826/
https://www.ncbi.nlm.nih.gov/pubmed/34638995
http://dx.doi.org/10.3390/ijms221910655

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8508826/
https://www.ncbi.nlm.nih.gov/pubmed/34638995
http://dx.doi.org/10.3390/ijms221910655

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