De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.

Journal of medical genetics
2020
https://researcherprofiles.org/profile/528309899
32430360
Buratti J, Ji L, Keren B, Lee Y, Booke S, Erdin S, Kim SY, Palculict TB, Meiner V, Chae JH, Woods CG, Tam A, Héron D, Cong F, Harel T