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Journal: Genes, 2022
Volume: 13
Number: 1339
Article:
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
Authors:
by
Agnieszka Stembalska, Małgorzata Rydzanicz, Magdalena Klaniewska, Lech Dudarewicz, Agnieszka Pollak, Mateusz Biela, Piotr Stawinski, Rafal Ploski and Robert Smigiel
Link:
https://www.mdpi.com/2073-4425/13/8/1339
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