• Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome)
• Acromelic frontonasal dysostosis
• Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis
• Marfan syndrome: from gene to therapy
• Severe acrocallosal syndrome or acromelic frontonasal dysplasia?