Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans.
Hashimoto AS, Yu J, Williams C, Gaudenz K, Varshosaz P, Zhao R, Pilli N, Liu T, Russell J, Tooze RS, Twigg SRF, Banka S, Sweeney E, McGowan SJ, Knight SJL, Taylor JC, Froukh TJ, Palafoll MIV, Martínez-Gil N, Costa-Roger M, Villarreal-Molina MT, Lieberman Hernandez E, Abou Jamra R, Gattermann F, Koch-Hogrebe M, Wieczorek D, Trainor PA, Moise AR, Wilkie AOM, Kane MA.
Hashimoto AS, et al. Among authors: kane ma.
Genet Med Open. 2025 Mar 29;3:103427. doi: 10.1016/j.gimo.2025.103427. eCollection 2025.
Genet Med Open. 2025.
PMID: 40519748
Free PMC article.