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Joubert syndrome 12

Joubert syndrome type 12 is an autosomal recessive disorder caused by mutations in the KIF7 gene.

Systematic

Joubert syndrome
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KIF7
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References:

1.

Dafinger C et al. (2011) Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

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2.

Aykut A et al. (2008) An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia.

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3.

None (2008) The Greig cephalopolysyndactyly syndrome.

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4.

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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5.

Koenig R et al. (2002) Spectrum of the acrocallosal syndrome.

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6.

Kedar I et al. (1996) Recurrent anencephaly as a primary manifestation of the acrocallosal syndrome.

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7.

Christianson AL et al. (1994) Acrocallosal syndrome in two African brothers born to consanguineous parents.

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8.

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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9.

Nelson MM et al. (1982) The acrocallosal syndrome.

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10.

Legius E et al. (1985) Schinzel acrocallosal syndrome: a variant example of the Greig syndrome?

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11.

Schinzel A et al. (1986) The acrocallosal syndrome in sisters.

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12.

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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13.

Philip N et al. (1988) The acrocallosal syndrome.

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14.

Moeschler JB et al. (1989) Acrocallosal syndrome: new findings.

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15.

Salgado LJ et al. (1989) Acrocallosal syndrome in a girl born to consanguineous parents.

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16.

Casamassima AC et al. (1989) Acrocallosal syndrome: additional manifestations.

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17.

Temtamy SA et al. (1989) Hypogenitalism in the acrocallosal syndrome.

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18.

Hendriks HJ et al. (1990) Acrocallosal syndrome.

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19.

Yüksel M et al. (1990) The acrocallosal syndrome in a Turkish boy.

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20.

Turolla L et al. (1990) How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case.

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21.

Fryns JP et al. (1991) The variable clinical spectrum and mental prognosis of the acrocallosal syndrome.

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22.

Lungarotti MS et al. (1991) Acrocallosal syndrome: a new case.

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23.

Gelman-Kohan Z et al. (1991) Further delineation of the acrocallosal syndrome.

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24.

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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25.

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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26.

Brueton LA et al. (1992) The acrocallosal syndrome and Greig syndrome are not allelic disorders.

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27.

None (1979) Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?

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28.

Lee JE et al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

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29.

Putoux A et al. (2011) KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

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30.

OMIM.ORG article

Omim 200990 external link
31.

Wikipedia article

Wikipedia EN (Joubert_syndrome) external link
Update: Aug. 14, 2020
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