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- W4289969576 abstract "To report on the clinical characteristics of a family of short-rib polydactyly syndrome type III and its pathogenic variants.Muscle samples from the the third fetus was collected after the induction of labor, and peripheral blood samples of its parents and grandparents were also collected. Whole exome sequencing (WES) was carried out for the pedigree. Candidate variants were verified by Sanger sequencing of the family.The proband was found to harbor a c.9819+1G>A variant and a c.4625C>A variant of the DYNC2H1 gene, which were respectively inherited from its mother and father. Sanger sequencing verified that the family has fit the autosomal recessive inheritance.The c.9819+1G>A and c.4625C>A variants of the DYNC2H1 gene probably underlay the short-rib polydactyly syndrome type 3 in the proband." @default.
- W4289969576 created "2022-08-06" @default.
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- W4289969576 date "2022-08-10" @default.
- W4289969576 modified "2023-10-16" @default.
- W4289969576 title "[Family analysis of a child with Short-rib polydactyly syndrome type III due to variant of DYNC2H1 gene]." @default.
- W4289969576 doi "https://doi.org/10.3760/cma.j.cn511374-20210628-00549" @default.
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