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Article

Correlation between novel compound heterozygous ADAMTSL4 variants and primary phenotypes of ectopia lentis et pupillae.

Experimental eye research - 1 Nov 2022

Zhao Junhong, Zhou You, Zhang Jing, Zhang Kejin, Shang Lijun, Li Junlin

Abstract excerpt

PURPOSE: To investigate molecular pathogenesis of congenital ectopia lentis accompanied by various ophthalmic manifestations in a pedigree. METHODS: Three female siblings, their spouse and offspring underwent ophthalmic and general medical examinations. Genetic variants were screened with the whole exome sequencing and analyzed in either a dominant or recessive inheritance manner. Gene mutations were ascertained...

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PMID: 36089008
DOI: 10.1016/j.exer.2022.109243

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