De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features
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DOI: 10.1136/jmedgenet-2020-107137
Abstract: Objective To determine the potential disease association between variants in LMBRD2 and complex multisystem neurological and developmental delay phenotypes. Methods Here we describe a series of de novo missense variants in LMBRD2 in 10 unrelated… read more here.
Keywords: missense variants; lmbrd2 associated; novo missense; developmental motor ... See more keywords