Article
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.
BMC medical genetics - 1 May 2014
Strom Samuel P, Lozano Reymundo, Lee Hane, Dorrani Naghmeh, Mann John, O'Lague Patricia F, Mans Nicole, Deignan Joshua L, Vilain Eric, Nelson Stanley F, Grody Wayne W, Quintero-Rivera Fabiola
Abstract excerpt
BACKGROUND: Wiedemann-Steiner Syndrome (WSS) is characterized by short stature, a variety of dysmorphic facial and skeletal features, characteristic hypertrichosis cubiti (excessive hair on the elbows), mild-to-moderate developmental delay and intellectual disability. [MIM#: 605130]. Here we report two unrelated children for whom clinical exome sequencing of parent-proband trios was performed at UCLA, resulting...
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