Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance
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DOI: 10.1111/cge.13132
Abstract: Diagnostic exome sequencing (DES) has aided delineation of the phenotypic spectrum of rare genetic etiologies of intellectual disability (ID). A SET domain containing 5 gene (SETD5) phenotype of ID and dysmorphic features has been previously… read more here.
Keywords: dysmorphic features; developmental delay; delineation; setd5 ... See more keywords