{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:29Z","timestamp":1786976789636,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,3,26]],"date-time":"2019-03-26T00:00:00Z","timestamp":1553558400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Saudi Human Genome Program"},{"name":"King Salman Center for Disability Research"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>\n                    We report two siblings with microcephaly, early infantile onset seizures, and cerebellar vermis hypoplasia, in whom whole exome sequencing revealed a novel homozygous missense (c.770T&gt;C, p.[Leu257Pro]) variant in the hedgehog acyl\u2010transferase gene (\n                    <jats:italic>HHAT<\/jats:italic>\n                    ), encoding an enzyme required for the attachment of palmitoyl residues that are critical for multimerization and long and short range hedgehog signaling. There is a report of one family with Nivelon\u2013Nivelon\u2013Mabille syndrome in which\n                    <jats:italic>HHAT<\/jats:italic>\n                    was proposed as the likely candidate gene. The phenotypic overlap with the family we report herein provides further evidence implicating\n                    <jats:italic>HHAT<\/jats:italic>\n                    in cerebellar development and the pathogenesis of this rare spectrum.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.61133","type":"journal-article","created":{"date-parts":[[2019,3,26]],"date-time":"2019-03-26T04:08:00Z","timestamp":1553573280000},"page":"1053-1057","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar\u2010vermis hypoplasia"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2893-8802","authenticated-orcid":false,"given":"Ghada M. H.","family":"Abdel\u2010Salam","sequence":"first","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inas","family":"Mazen","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha","family":"Eid","sequence":"additional","affiliation":[{"name":"Human Cytogenetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nour","family":"Ewida","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center  Riyadh Saudi 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