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30. An intrafamilial phenotypic variability in Ellis-Van Creveld syndrome due to a novel 27 bps deletion mutation. Zaka A, Shahzad S, Rao HZ, Kanwal S, Gul A, Basit S. Am J Med Genet A; 2021 Oct; 185(10):2888-2894. PubMed ID: 34037314 [Abstract] [Full Text] [Related]
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