Joubert syndrome 02

Joubert syndrome type 2 is an autosomal recessive disorder caused by mutations in the TMEM216 gene.

Systematic

Joubert syndrome
	Joubert syndrome 01
	Joubert syndrome 02
		TMEM216
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References:

1.	Valente EM et al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

2.	Verloes A et al. (1992) Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome.

3.	Ahdab-Barmada M et al. (1990) A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome.

4.	Paavola P et al. (1995) The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

5.	Merscher S et al. (1997) A 5.5-Mb high-resolution integrated map of distal 11q13.

6.	Pattyn A et al. (1997) Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis.

7.	Roume J et al. (1997) Genetic heterogeneity of Meckel syndrome.

8.	Roume J et al. (1998) A gene for Meckel syndrome maps to chromosome 11q13.

9.	OMIM.ORG article Omim 603194

10.	Wikipedia article Wikipedia EN (Joubert_syndrome)

Update: June 23, 2025

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