Associated Papers
Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases.
Kyian T et al.
Genes, 2024
Case report and a brief review: Analysis and challenges of prenatal imaging phenotypes and genotypes in Joubert syndrome.
Huang LX et al.
Frontiers in Genetics, 2022
A novel non-sense variant in the OFD1 gene caused Joubert syndrome.
Li C et al.
Frontiers in Genetics, 2022
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