Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood
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DOI: 10.1136/jmedgenet-2018-105421
Abstract: Background Dandy-Walker malformation features agenesis/hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of posterior fossa. Although Dandy-Walker malformation is relatively common and several genes were linked to the syndrome, the… read more here.
Keywords: novel syndrome; syndrome affects; walker malformation; dandy walker ... See more keywords