Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans
短链脱氢酶/还原酶 3 (DHRS3) 缺乏症的鉴定和表征,一种人类视黄酸胚胎病
期刊:Genetics in Medicine Open
影响因子:
doi:10.1016/j.gimo.2025.103427
Hashimoto, Akiko Soneda; Yu, Jianshi; Williams, Christina; Gaudenz, Karin; Varshosaz, Parisa; Zhao, Ruonan; Pilli, Nageswara; Liu, Tian; Russell, Jonathon; Tooze, Rebecca S; Twigg, Stephen R F; Banka, Siddharth; Sweeney, Elizabeth; McGowan, Simon J; Knight, Samantha J L; Taylor, Jenny C; Froukh, Tawfiq Jamal; Palafoll, M Irene Valenzuela; Martínez-Gil, Núria; Costa-Roger, Mar; Villarreal-Molina, Maria Teresa; Lieberman Hernandez, Esther; Abou Jamra, Rami; Gattermann, Felix; Koch-Hogrebe, Margarete; Wieczorek, Dagmar; Trainor, Paul A; Moise, Alexander R; Wilkie, Andrew O M; Kane, Maureen A