Ellis-van Creveld syndrome (EvC MIM. #225500) is an autosomal recessive skeletal dysplasia characterised by thoracic hypoplasia, cardiac anomalies, acromesomelic limb shortening, and postaxial polydactyly. Affected individuals commonly manifest with cardiorespiratory failure as neonates but generally survive neonatal difficulties. We report here on affected Japanese sibs with a lethal phenotype of EvC caused by novel compound heterozygous mutations of , c.871-3 C > G and c.1991dupA.
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| http://dx.doi.org/10.1038/s41439-019-0071-9 | DOI Listing |
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Identification of two novel genetic variants for Ellis-van Creveld syndrome from a Chinese family through whole exome sequencing.
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