Meckel syndrome type 9 is an autosomal recessive disorder caused by mutations in the TCTN2 gene.
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| 1. |
Hopp K et al. (2011) B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
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| 2. |
OMIM.ORG article Omim 614209
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