Associated Papers
A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element.
Replogle MR et al.
Human Mutation, 2024
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Caron V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia.
Trieschmann G et al.
European Journal of Medical Genetics, 2023
Genetic architecture of retinoic-acid signaling-associated ocular developmental defects.
Nedelec B et al.
Human Genetics, 2019
Recessive gene disruptions in autism spectrum disorder.
Doan RN et al.
Nature Genetics, 2019
31209396 (PubMed )
Supplement: NIHMS1528530-supplement-1.pdf
Retinoic acid receptor beta variant-related colonic hypoganglionosis.
Foster KJ et al.
American Journal of Medical Genetics. Part A, 2019
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.
Srour M et al.
Human Mutation, 2016
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.
Srour M et al.
American Journal of Human Genetics, 2013
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