Joubert syndrome 12

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

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

None (2008) The Greig cephalopolysyndactyly syndrome.

Elson E et al. (2002) De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.

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

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

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

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.

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

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

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

None (1988) The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.

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

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

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

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

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

Hendriks HJ et al. (1990) Acrocallosal syndrome.

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

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

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

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

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

Pfeiffer RA et al. (1992) Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3.

Cataltepe S et al. (1992) A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity.

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

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

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

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

OMIM.ORG article

Wikipedia article