A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting
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DOI: 10.1038/s41439-021-00148-8
Abstract: A recurrent ZSWIM6 variant, NM_020928.2:c.2737C>T [p.Arg913*], was identified in a Japanese male patient with severe neurodevelopmental delay, epilepsy, distinctive facial features, microcephaly, growth deficiency, abnormal behavior, and frequent vomiting but without frontonasal or limb malformations.… read more here.
Keywords: severe neurodevelopmental; zswim6 variant; patient severe; neurodevelopmental delay ... See more keywords