Joubert syndrome type 2 is an autosomal recessive disorder caused by mutations in the TMEM216 gene.
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Valente EM et al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. |
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Ahdab-Barmada M et al. (1990) A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome. |
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Paavola P et al. (1995) The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. |
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Merscher S et al. (1997) A 5.5-Mb high-resolution integrated map of distal 11q13. |
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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) |