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Paper Details

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Genet Med
2
2023
Loss, MCOPS12, RARB, RARB variants, birth anomalies, developmental eye anomaly, disruption, dystonia, global developmental delay, microphthalmia, motor impairment, retinoic acid, retinoic acid receptor beta, retinoic acid receptor beta (RARB) gene, retinoids, spasticity
Author NameAffiliation
Nicola K RaggeOxford Brookes University, Birmingham Women's and Children's NHS Foundation Trust and Birmingham Health Partners
Alvaro H Serrano RussiChildren's Hospital Los Angeles
Ann NordgrenKarolinska Institutet, Karolinska University Hospital
Denise HornCharite - Universitatsmedizin Berlin, corporate member of Freie Universitat Berlin and Humboldt-Universitat zu Berlin, Institute for Medical Genetics and Human Genetics
James R LupskiBaylor College of Medicine, TX Texas Children's Hospital
James R LupskiBaylor College of Medicine, TX Texas Children's Hospital
William B DobynsUniversity of Minnesota
Richard HoltOxford Brookes University
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