Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT 140 that causes Mainzer-Saldino syndrome

Benjamin M. Helm, Jason R. Willer, Azita Sadeghpour, Christelle Golzio, Eric Crouch, Samantha Schrier Vergano, Elias Nicholas Katsanis*, Erica Ellen Davis

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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Medicine & Life Sciences