Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Meckel syndrome 10

Meckel syndrome type 10 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
Meckel syndrome 10
B9D2
Meckel syndrome 11
Meckel syndrome 13

References:

1.

Dowdle WE et. al. (2011) Disruption of a ciliary B9 protein complex causes Meckel syndrome.

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2.

Bachmann-Gagescu R et. al. (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

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Update: Sept. 26, 2018