A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype

por AbuBakr, Fatima, Jeffries, Lauren, Ji, Weizhen, McGrath, James M., Lakhani, Saquib A.
Publicado 2020

Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure

por Criscione, June, Ji, Weizhen, Jeffries, Lauren, McGrath, James M., Soloway, Scott, Pusztai, Lajos, Lakhani, Saquib
Publicado 2019