Associated Papers
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty B et al.
Investigative Ophthalmology & Visual Science, 2024
38502138 (PubMed )
Supplement: iovs-65-3-25_s002.xlsx › Sheet1
Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.
Santana Almansa A et al.
Annals of Clinical and Translational Neurology, 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
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.
Srour M et al.
Human Mutation, 2016
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