Case Report: Preimplantation Genetic Testing for Meckel Syndrome Induced by Novel Compound Heterozygous Mutations of MKS1
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DOI: 10.3389/fgene.2022.843931
Abstract: Meckel syndrome (MKS), also known as the Meckel–Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of the primary cilia during early embryogenesis. The diagnostic criteria are based on clinical variability… read more here.
Keywords: preimplantation genetic; mutations mks1; heterozygous mutations; syndrome ... See more keywords