Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions

Abstract

Purpose: , showing that several cases were misdiagnosed and were, in fact, other entities. Nevertheless, there has not been any adequate phenotypic characterization of molecularly defined EVC syndrome so far. Methods: . Demographic, genetic, and clinical information of patients was assessed. Results: , as a potential genetic modifier of the severity of the EVC syndrome. Conclusion: , which had not been implicated in human disease before.

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