https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1252873/full
Frontiers | Identification of novel TMEM231 gene splice variants and pathological findings in a...
Background: Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy with high clinical and genetic heterogeneity. MKS shows co...