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

Abstract:

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 sporadic subjects (one of whom had no limb malformation) and a mildly affected femal...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted manuscript

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Publisher copy:
10.1111/cge.12721

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Molecular Medicine
Ousager, LO More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Molecular Medicine
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Molecular Medicine
Elalaoui, SC More by this author
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Publisher:
Wiley: 12 months Publisher's website
Journal:
Clinical Genetics Journal website
DOI:
ISSN:
1399-0004
URN:
uuid:db47314c-e7fe-4555-b99d-14a6692c80ab
Source identifiers:
580880
Local pid:
pubs:580880

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