Article
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
Clinical genetics - 1 Sept 2016
Twigg S R F, Ousager L B, Miller K A, Zhou Y, Elalaoui S C, Sefiani A, Bak G S, Hove H, Hansen L K, Fagerberg C R, Tajir M, Wilkie A O M
Abstract excerpt
Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. A single recurrent heterozygous missense substitution in ZSWIM6, encoding a protein of unknown function, was previously shown to underlie this disorder in four unrelated cases. Here we describe four additional individuals from three families, comprising two...
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