Identification of a novel microdeletion causative of Nance-Horan syndrome.
Mariana Lopez MartinolichHope NorthrupPedro ManciasPaul R HillmanKavya Indira RaoKate MowreyPublished in: Molecular genetics & genomic medicine (2022)
Here, we report the second largest microdeletion causative of NHS which also encompasses the remaining four kindreds in hopes of offering a unique perspective at the clinical variability within NHS, investigate genes of interest, and expand the phenotype.