Our molecular and functional data demonstrate that the condition characterized as “common atrium/AVCD with postaxial polydactyly” is a mild form of EvC due hypomorphic EVC mutations, further supporting the occurrence of genotype-phenotype correlations in this syndrome.
Common atrium, atrioventricular canal defect/postaxial polydactyly: a mild clinical subtype of Ellis-van Creveld syndrome caused by compound heterozygosity for loss of function and hypomorphic EVC mutations.
Briuglia, S;Dallapiccola, B;
2019-01-01
Abstract
Our molecular and functional data demonstrate that the condition characterized as “common atrium/AVCD with postaxial polydactyly” is a mild form of EvC due hypomorphic EVC mutations, further supporting the occurrence of genotype-phenotype correlations in this syndrome.File in questo prodotto:
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