Identification of a novel microdeletion causative of Nance‐Horan syndrome
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DOI: 10.1002/mgg3.1879
Abstract: Nance‐Horan syndrome (NHS) is a rare X‐linked genetic disorder characterized by ophthalmologic and dental anomalies as well as dysmorphic facies. The clinical phenotype in males includes congenital cataracts, vision loss, microcornea, nystagmus, microphthalmia, glaucoma, screwdriver… read more here.
Keywords: nance horan; horan syndrome; identification novel; novel microdeletion ... See more keywords