Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family
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DOI: 10.1007/s43032-022-00898-y
Abstract: Meckel syndrome (MKS, OMIM:249000) is a severe multiorgan dysplastic lethal ciliopathy with extreme genetic heterogeneity. Defects in RPGRIP1L are the cause of MKS type 5 (MKS5, OMIM:611561). However, only six different variants have been reported… read more here.
Keywords: meckel syndrome; genetic testing; preimplantation genetic; family ... See more keywords