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2. Duran, Ivan, Taylor, S Paige, Zhang, Wenjuan, Cohn, Daniel H, Krakow, Deborah. 2017. Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. In Cilia, 6, 7. doi:10.1186/s13630-017-0051-y. https://pubmed.ncbi.nlm.nih.gov/28400947/
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4. Topcu, Vehap, Yildirim, Said Furkan, Turan, Husnu Mutlu. 2023. Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in GRK2: A Newly Associated Gene for Jeune Syndrome Phenotype. In Molecular syndromology, 15, 119-124. doi:10.1159/000534031. https://pubmed.ncbi.nlm.nih.gov/38585547/
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