Joubert syndrome 24

Joubert syndrome type 24 is an autosomal recessive disorder caused by mutations in the TCTN2 gene.

Systematic

Joubert syndrome
	Joubert syndrome 01
	Joubert syndrome 02
	Joubert syndrome 03
	Joubert syndrome 04
	Joubert syndrome 05
	Joubert syndrome 06
	Joubert syndrome 07
	Joubert syndrome 08
	Joubert syndrome 09
	Joubert syndrome 10
	Joubert syndrome 11
	Joubert syndrome 12
	Joubert syndrome 13
	Joubert syndrome 14
	Joubert syndrome 15
	Joubert syndrome 16
	Joubert syndrome 17
	Joubert syndrome 18
	Joubert syndrome 19
	Joubert syndrome 20
	Joubert syndrome 21
	Joubert syndrome 22
	Joubert syndrome 23
	Joubert syndrome 24
		TCTN2
	Joubert syndrome 25
	Joubert syndrome 26
	Joubert syndrome 27
	Joubert syndrome 28
	Joubert syndrome 29
	Joubert syndrome 30
	Joubert syndrome 31
	Joubert syndrome 32
	Joubert syndrome 33
	Joubert syndrome 34
	Joubert syndrome 35

References:

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

2.	Sang L et al. (2011) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.

3.	Huppke P et al. (2015) Tectonic gene mutations in patients with Joubert syndrome.

4.	OMIM.ORG article Omim 616654

5.	Wikipedia article Wikipedia EN (Joubert_syndrome)

Update: June 23, 2025

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