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Article

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

International journal of molecular sciences - 30 Sept 2021

Jarwar Priya, Sheikh Shakeel Ahmed, Waryah Yar Muhammad, Ujjan Ikram Uddin, Riazuddin Saima, Waryah Ali Muhammad, Ahmed Zubair M

Abstract excerpt

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 in these families. Exome sequencing of probands identified a novel homozygous c.2710delG;p.(Val904Cysfs*36) EPHA2...

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Identifiers

PMID: 34638995
DOI: 10.3390/ijms221910655
PMCID: PMC8508826

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