Der Typ 14 des Joubert-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen TMEM237 hervorgerufen wird.
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Chong JX et al. (2012) A population-based study of autosomal-recessive disease-causing mutations in a founder population. ![]() |
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Janecke AR et al. (2004) Joubert-like syndrome unlinked to known candidate loci. ![]() |
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Boycott KM et al. (2007) Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome. ![]() |
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Huang L et al. (2011) TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. ![]() |
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Schurig V et al. (1980) The Meckel syndrome in the Hutterites. ![]() |
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OMIM.ORG article Omim 614424![]() |