Waisman Center
Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.

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.

Hendee K, Wang LW, Reis LM, Rice GM, Apte SS, Semina EV. (2017). 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. Human Mutation, 38(11):1485-1490. doi: 10.1002/humu.23299.