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Article

Mutations in FYCO1 cause autosomal-recessive congenital cataracts.

American journal of human genetics - 10 Jun 2011

Chen Jianjun, Ma Zhiwei, Jiao Xiaodong, Fariss Robert, Kantorow Wanda Lee, Kantorow Marc, Pras Eran, Frydman Moshe, Pras Elon, Riazuddin Sheikh, Riazuddin S Amer, Hejtmancik J Fielding

Abstract excerpt

Congenital cataracts (CCs), responsible for about one-third of blindness in infants, are a major cause of vision loss in children worldwide. Autosomal-recessive congenital cataracts (arCC) form a clinically diverse and genetically heterogeneous group of disorders of the crystalline lens. To identify the genetic cause of arCC in consanguineous Pakistani families, we performed genome-wide linkage analysis and fine...

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Identifiers

PMID: 21636066
DOI: 10.1016/j.ajhg.2011.05.008
PMCID: PMC3113247

Genes

FYCO1

Variants

Provenance

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