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, Kathryn, Wang, Lauren Weiping, Reis, Linda M., Rice, Gregory M., Apte, Suneel S., Semina, Elena V.Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.23299
Date:
July, 2017
File:
PDF, 687 KB
english, 2017