Associated Papers
Application of Whole-Exome Sequencing in the Genetic Diagnosis of Prenatal Ultrasound Abnormalities.
Qin L et al.
British Journal of Hospital Medicine (london, England : 2005), 2024
Genetic variations in the DYNC2H1 gene causing SRTD3 (short-rib thoracic dysplasia 3 with or without polydactyly).
Chen W et al.
Frontiers in Genetics, 2023
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.
Stembalska A et al.
Genes, 2022
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