A de novo GLI3 mutation in a patient with acrocallosal syndrome (Q56320109)

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Titia E Cohen-Overbeek

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Maarten F C M Knapen

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Simone M Lunshof

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A Jeannette M Hoogeboom

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Ans M van den Ouwenland

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Irenaneus F M de Coo

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Maarten H Lequin

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Hanno J Bolz

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Carsten Bergmann

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Patrick J Willems

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Marja W Wessels

American Journal of Medical Genetics

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language of work or name

English

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publication date

June 2013

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published in

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volume

161A

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issue

6

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page(s)

1394-400

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Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

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De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models

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Acrocallosal syndrome in fetus: focus on additional brain abnormalities

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Further delineation of the acrocallosal syndrome

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Could acrocallosal syndrome and Greig syndrome affect the same developmental gene?

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Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

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Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.

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Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

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Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

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GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

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Spectrum of the acrocallosal syndrome.

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Point mutations in GLI3 lead to misregulation of its subcellular localization

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Metopic craniosynostosis due to mutations in GLI3: A novel association.

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Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

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KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

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The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations

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Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: severe expression of the acrocallosal syndrome?

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