{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:01:00Z","timestamp":1791327660436,"version":"4.3.1"},"reference-count":29,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>Acrocallosal syndrome (ACLS) is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum, facial dysmorphism, postaxial polydactyly of the hands as well as preaxial polydactyly of the feet, and developmental delay. Mutations in the &lt;i&gt;KIF7&lt;\/i&gt; gene, encoding a molecule within the Sonic hedgehog (SHH) pathway, have been identified as causative for ACLS but also for the fatal hydrolethalus syndrome and some cases of Joubert syndrome. We report here on a Tunisian boy who shows the clinical characteristics of ACLS and was found to have a novel homozygous &lt;i&gt;KIF7&lt;\/i&gt; nonsense mutation. Further, we summarize the current knowledge about the clinical spectrum associated with &lt;i&gt;KIF7&lt;\/i&gt; mutations as well as genetic and\/or phenotypic overlap with ciliopathies and other mutations in the SHH pathway.<\/jats:p>","DOI":"10.1159\/000439414","type":"journal-article","created":{"date-parts":[[2015,10,6]],"date-time":"2015-10-06T21:01:37Z","timestamp":1444165297000},"page":"173-180","source":"Crossref","is-referenced-by-count":25,"title":["Novel &lt;b&gt;&lt;i&gt;KIF7&lt;\/i&gt;&lt;\/b&gt; Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the 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