Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans
Hashimoto As, Yu J, Williams C, Zueckert-Gaudenz K, Varshosaz P, Zhao R, Pilli N, Liu TY, Russell J, Tooze RS, Twigg SRF, Banka S, Sweeney EW, McGowan SJ, Knight SJL, Taylor JC, Froukh TJ, Palafoll MIV, Martinez-Gil N, Costa-Roger M, Villarreal-Molina MT, Hernandez EL, Jamra RA, Gattermann F, Koch-Hogrebe M, Wieczorek D, Trainor PA, Moise AR, Wilkie AOM, Kane MA. Genet Med Open. 2025;3:103427.
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