Syddansk Universitet Acromelic frontonasal dysostosis and ZSWIM 6 mutation

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  2017

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• Frontonasal dysplasia.

  2020influential reference
• Mosaic KCNJ2 mutation in Andersen–Tawil syndrome: targeted deep sequencing is useful for the detection of mosaicism

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• Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novo” SCN1A Mutations in Children with Dravet Syndrome

  2015cited by this paper
• Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.

  2014influential reference
• Comparison of high resolution melting analysis, pyrosequencing, next generation sequencing and immunohistochemistry to conventional Sanger sequencing for the detection of p.V600E and non-p.V600E BRAF mutations

  2014cited by this paper
• Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.

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• Familial acromelic frontonasal dysostosis: Autosomal dominant inheritance with reduced penetrance

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• SWIM, a novel Zn-chelating domain present in bacteria, archaea and eukaryotes.

  2002cited by this paper
• Acromelic frontonasal dysostosis.

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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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• Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome).

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