Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.

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 di...

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Hlavní autoři: Twigg, S, Ousager, L, Miller, K, Zhou, Y, Elalaoui, S, Sefiani, A, Bak, G, Hove, H, Hansen, L, Fagerberg, C, Tajir, M, Wilkie, A
Médium: Journal article
Vydáno: Wiley 2015

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