A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2
2019
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 failureas 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 EVC2, c.871-3 C > G and c.1991dupA.
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