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Stembalska A, Rydzanicz M, Klaniewska M, Dudarewicz L, Pollak A, Biela M, Stawinski P, Ploski R, Smigiel R. Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias. Genes. 2022; 13(8):1339. https://doi.org/10.3390/genes13081339

Stembalska, Agnieszka, Małgorzata Rydzanicz, Magdalena Klaniewska, Lech Dudarewicz, Agnieszka Pollak, Mateusz Biela, Piotr Stawinski, Rafal Ploski, and Robert Smigiel. 2022. "Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias" Genes 13, no. 8: 1339. https://doi.org/10.3390/genes13081339

Stembalska, A., Rydzanicz, M., Klaniewska, M., Dudarewicz, L., Pollak, A., Biela, M., Stawinski, P., Ploski, R., & Smigiel, R. (2022). Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias. Genes, 13(8), 1339. https://doi.org/10.3390/genes13081339