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Article

Mutations in FYCO1 identified in families with congenital cataracts.

Molecular vision - 1 Jan 2020

Iqbal Hira, Khan Shahid Y, Zhou Lin, Irum Bushra, Ali Muhammad, Ahmed Mariya R, Shahzad Mohsin, Ali Muhammad Hassaan, Naeem Muhammad Asif, Riazuddin Sheikh, Hejtmancik J Fielding, Riazuddin S Amer

Abstract excerpt

Purpose: This study was designed to identify the pathogenic variants in three consanguineous families with congenital cataracts segregating as a recessive trait. Methods: Consanguineous families with multiple individuals manifesting congenital cataracts were ascertained. All participating members underwent an ophthalmic examination. A small aliquot of the blood sample was collected from all participating...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32355443
PMCID: PMC7190580

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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