Condition: ACROMELIC FRONTONASAL DYSOSTOSIS


rs587777695 in ZSWIM6 gene and ACROMELIC FRONTONASAL DYSOSTOSIS PMID 26706854 2016 Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.

PMID 25105228 2014 Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.