RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.

Aren Elizabeth MarshallStella K MacDonaldYijing LiangMadeline Cousenull nullKym M BoycottJulie RicherKristin D Kernohan

Published in: Molecular genetics & genomic medicine (2023)

This case demonstrates the diagnostic utility of RNA-Seq for variant interpretation following inconclusive clinical testing, which can ultimately lead to diagnosis for patients with rare disease.

Keyphrases

rna seq
single cell
case report
spinal cord
copy number
spinal cord injury
gene expression
genome wide