Der Typ 12 des Joubert-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen KIF7 hervorgerufen wird.
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Dafinger C et al. (2011) Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. |
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Aykut A et al. (2008) An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia. |
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None (2008) The Greig cephalopolysyndactyly syndrome. |
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Elson E et al. (2002) De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. |
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Koenig R et al. (2002) Spectrum of the acrocallosal syndrome. |
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Kedar I et al. (1996) Recurrent anencephaly as a primary manifestation of the acrocallosal syndrome. |
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Christianson AL et al. (1994) Acrocallosal syndrome in two African brothers born to consanguineous parents. |
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Schinzel A et al. (1980) Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome. |
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Nelson MM et al. (1982) The acrocallosal syndrome. |
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Legius E et al. (1985) Schinzel acrocallosal syndrome: a variant example of the Greig syndrome? |
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Schinzel A et al. (1986) The acrocallosal syndrome in sisters. |
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None (1988) The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance. |
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Philip N et al. (1988) The acrocallosal syndrome. |
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Moeschler JB et al. (1989) Acrocallosal syndrome: new findings. |
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Salgado LJ et al. (1989) Acrocallosal syndrome in a girl born to consanguineous parents. |
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Casamassima AC et al. (1989) Acrocallosal syndrome: additional manifestations. |
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Temtamy SA et al. (1989) Hypogenitalism in the acrocallosal syndrome. |
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Hendriks HJ et al. (1990) Acrocallosal syndrome. |
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Yüksel M et al. (1990) The acrocallosal syndrome in a Turkish boy. |
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Turolla L et al. (1990) How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case. |
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Fryns JP et al. (1991) The variable clinical spectrum and mental prognosis of the acrocallosal syndrome. |
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Lungarotti MS et al. (1991) Acrocallosal syndrome: a new case. |
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Gelman-Kohan Z et al. (1991) Further delineation of the acrocallosal syndrome. |
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Pfeiffer RA et al. (1992) Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3. |
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Cataltepe S et al. (1992) A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity. |
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Brueton LA et al. (1992) The acrocallosal syndrome and Greig syndrome are not allelic disorders. |
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None (1979) Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome? |
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Lee JE et al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. |
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Putoux A et al. (2011) KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. |
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OMIM.ORG article Omim 200990 |
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Wikipedia Artikel Wikipedia DE (Joubert-Syndrom) |