Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian Family.

Abstract excerpt

Rare diseases impact ~6%-8% of the population, thus constituting an issue for public health worldwide. The increasing application of genomic technologies in the routine diagnosis of these conditions is documenting the need to integrate multiple techniques in the most complex cases. We describe a 14-year-old boy and his 4-year-old sister, both presenting with neonatal hypotonia, severe global developmental delay,...

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