Acromelic frontonasal dysostosis
Definition:
Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. The mutations in ZSWIM6 have been shown to underlie this disorder.
References:
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[1]. Joshua D Smith, et al. Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. Am J Hum Genet. 2014 Aug 7;95(2):235-40. [Content Brief]
[2]. S R F Twigg, et al. Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism. Clin Genet. 2016 Sep;90(3):270-5. [Content Brief]
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