Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.

Identification and Functional Analysis of an ADAMTSL1 Variant Associated With a Complex Phenotype Including Congenital Glaucoma, Craniofacial, and Other Systemic Features in a Three-Generation Human Pedigree.