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Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings
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Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis–van Creveld syndrome
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Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis–van Creveld syndrome
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