Meckel syndrome: Clinical and mutation profile in six fetuses
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DOI: 10.1111/cge.13623
Abstract: Meckel syndrome (MKS) is a perinatally lethal, genetically heterogeneous, autosomal recessive condition caused by defective primary cilium formation leading to polydactyly, multiple cysts in kidneys and malformations of nervous system. We performed exome sequencing in… read more here.
Keywords: profile six; mutation profile; clinical mutation; meckel syndrome ... See more keywords