eP410: De novo missense variants in DDX39B cause a novel syndrome characterized by neurodevelopmental delay, short stature and congenital hypotonia

K Treat, S Jangam, S Yamamoto, K White, O Kanca, C Christensen, S Lynch, J Baptista, MHY Tsang, K Jay, BHY Chung, LYP Yuen, MMC Chui, H Bellen, M Wangler, E Conboy, F Vetrini

Research output: Contribution to conferenceConference paper (not formally published)peer-review

Original languageEnglish
DOIs
Publication statusPublished - Mar 2022

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