Ectopia lentis associated with a 20-base deletion in the ADAMTSL4 gene in the Old Order Amish population.

Abstract excerpt

BACKGROUND: ADAMTSL4-related eye disorder is a rare autosomal recessive disease with a wide spectrum of severity and expressivity. We describe the genotypic and phenotypic findings in a cohort of Ohio Anabaptist with a pathogenic ADAMTSL4 gene sequence variation. METHODS: Patient phenotypes were gathered from clinical data. Genetic information was collected using clinical exome sequencing followed by Sanger...

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