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

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11570/3164116
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