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- W4280494503 abstract "Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia that is characterized by thoracic hypoplasia, polydactyly, oral abnormalities, and congenital heart disease. It is caused by pathogenic variants in the EVC or EVC2 genes. We report a case of a newborn with a compound heterozygous variant comprising NM_147127.5: c.1991dup:[p.Lys665Glufs*10] in the EVC2 gene and a novel large deletion involving exon 1 in EVC and exons 1-7 in EVC2." @default.
- W4280494503 created "2022-05-22" @default.
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- W4280494503 date "2022-05-17" @default.
- W4280494503 modified "2023-10-09" @default.
- W4280494503 title "Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome" @default.
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- W4280494503 doi "https://doi.org/10.1038/s41439-022-00190-0" @default.
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