Pamidronate Response in a Novel Biallelic CREB3L1 Gene Mutation-Associated Osteogenesis Imperfecta: A Case Report.

Agnes Selina Madhavi Kandagaddala Vrisha Madhuri

Published in: JBJS case connector (2024)

We report a novel biallelic missense variant c.925C>T, p.Arg309Cys, in the CREB3L1 gene causing OI, which responded to bisphosphonate therapy and corrective surgery.

Keyphrases

intellectual disability
autism spectrum disorder
minimally invasive
coronary artery bypass
genome wide
copy number
gene expression
atrial fibrillation
genome wide analysis
smoking cessation