Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Meckel syndrome 09

Meckel syndrome type 9 is an autosomal recessive disorder caused by mutations in the TCTN2 gene.

Systematic

Meckel syndrome
Meckel syndrome 02
Meckel syndrome 03
Meckel syndrome 05
Meckel syndrome 06
Meckel syndrome 08
Meckel syndrome 09
B9D1
Meckel syndrome 10
Meckel syndrome 11
Meckel syndrome 13

References:

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 [^]
Update: April 29, 2019