Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans

Purpose: Signaling by the morphogen all-trans retinoic acid (RA) is critical for embryonic development, during which its tissue concentration must be tightly regulated. We investigated 8 sibships (12 individuals) segregating 5 different homozygous variants of dehydrogenase/reductase 3 (DHRS3), which...

Full description

Saved in:

Bibliographic Details
Main Authors:	Akiko Soneda Hashimoto, Jianshi Yu, Christina Williams, Karin Gaudenz, Parisa Varshosaz, Ruonan Zhao, Nageswara Pilli, Tian Liu, Jonathon Russell, Rebecca S. Tooze, Stephen R.F. Twigg, Siddharth Banka, Elizabeth Sweeney, Simon J. McGowan, Samantha J.L. Knight, Jenny C. Taylor, Tawfiq Jamal Froukh, M. Irene Valenzuela Palafoll, Núria Martínez-Gil, Mar Costa-Roger, Maria Teresa Villarreal-Molina, Esther Lieberman Hernandez, Rami Abou Jamra, Felix Gattermann, Margarete Koch-Hogrebe, Dagmar Wieczorek, Paul A. Trainor, Alexander R. Moise, Andrew O.M. Wilkie, Maureen A. Kane
Format:	Article
Language:	English
Published:	Elsevier 2025-01-01
Series:	Genetics in Medicine Open
Subjects:	5′-untranslated region Craniosynostosis Noncoding variant Retinoic acid Vitamin A
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774425014669
Tags:	Add Tag No Tags, Be the first to tag this record!

Be the first to leave a comment!

Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans

Similar Items