Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans
We define a novel developmental syndrome associated with biallelic hypomorphic variants in <i>DHRS3</i>; a careful assessment of individual variants is required to establish a causal link to phenotype.
Authors
- Érika Fernanda Tangerino Hernandez (ORCID: https://orcid.org/0009-0001-5689-124X)
- Nageswara Pilli
- Paul A. Trainor (ORCID: https://orcid.org/0000-0003-2774-3624)
- Andrew O.M. Wilkie (ORCID: https://orcid.org/0000-0002-2972-5481)
- Irene Valenzuela (ORCID: https://orcid.org/0000-0003-2350-6058)
- Jonathon Russell
- Tawfiq Froukh
- Felix Gattermann (ORCID: https://orcid.org/0000-0002-4590-5378)
- Núria Martínez‐Gil (ORCID: https://orcid.org/0000-0002-9987-2858)
- Akiko Soneda Hashimoto (ORCID: https://orcid.org/0000-0001-8519-266X)
- Mar Costa‐Roger (ORCID: https://orcid.org/0000-0001-8949-9466)
- Dagmar Wieczorek
- Simon J. McGowan (ORCID: https://orcid.org/0000-0001-9720-1914)
- Alexander R. Moise (ORCID: https://orcid.org/0000-0003-2307-6035)
- Stephen R.F. Twigg (ORCID: https://orcid.org/0000-0001-5024-049X)
- Rebecca S Tooze (ORCID: https://orcid.org/0000-0003-1396-3765)
- Siddharth Banka (ORCID: https://orcid.org/0000-0002-8527-2210)
- Parisa Varshosaz
- Maureen A. Kane (ORCID: https://orcid.org/0000-0002-5525-9170)
- Karin Gaudenz
- Rami Abou Jamra (ORCID: https://orcid.org/0000-0002-1542-1399)
- Jianshi Yu (ORCID: https://orcid.org/0000-0002-4666-2435)
- Margarete Koch‐Hogrebe
- María Teresa Villarreal-Molina (ORCID: https://orcid.org/0000-0003-4450-7690)
- Samantha J L Knight
- Tian Liu (ORCID: https://orcid.org/0000-0001-9768-5496)
- Ruonan Zhao (ORCID: https://orcid.org/0000-0002-2660-7981)
- Jenny C Taylor (ORCID: https://orcid.org/0000-0003-1724-4282)
- Christina Williams
- Elizabeth Sweeney
Institutions
- Stowers Institute for Medical Research (US)
- Hebron University (PS)
- University of Maryland, Baltimore (US)
- University of Liverpool (GB)
- Philadelphia University (JO)
- Witten/Herdecke University (DE)
- University of Manchester (GB)
- University of Oxford (GB)
- Düsseldorf University Hospital (DE)
- Vestische Caritas-Kliniken (DE)
- Manchester University NHS Foundation Trust (GB)
- Vall d'Hebron Institut de Recerca (ES)
- St Mary's Hospital (GB)
- MRC Weatherall Institute of Molecular Medicine (GB)
- National Institute of Genomic Medicine (MX)
- University of Kansas Medical Center (US)
- Oxford BioMedica (United Kingdom) (GB)
- Instituto Nacional de Pediatria (MX)
- Genomics (United Kingdom) (GB)
- Instituto de Medicina Genómica (ES)
- Liverpool Womens NHS Foundation Trust (GB)
- Heinrich Heine University Düsseldorf (DE)
- NOSM University (CA)
- Leipzig University (DE)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103427
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Wellcome Trust
- Cancer Research UK
- National Institute for Health and Care Research
- Department of Health and Social Care
- University of Oxford
- National Institutes of Health
- Manchester Biomedical Research Centre
- Medical Research Council