Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. [electronic resource]
Producer: 20210128Description: 1426-1437 p. digitalISSN:- 1552-4833
- COUP Transcription Factor I -- genetics
- Codon, Nonsense -- genetics
- DNA-Binding Proteins
- Female
- Frameshift Mutation -- genetics
- Genetic Association Studies
- Humans
- Intellectual Disability -- complications
- Male
- Mutation -- genetics
- Optic Atrophies, Hereditary -- complications
- Point Mutation -- genetics
- Seizures -- complications
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Publication Type: Journal Article
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