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We present a case of type 2 autosomal recessive <jats:styled-content style=\"fixed-case\">AOS<\/jats:styled-content> associated with heterozygous mutations in the\u00a0dedicator of cytokinesis 6 (<jats:italic>DOCK6<\/jats:italic>) gene, with characteristic findings\u00a0of <jats:styled-content style=\"fixed-case\">ACC<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> TTLD<\/jats:styled-content>, intracerebral periventricular calcifications, and polymicrogyria.<\/jats:p>","DOI":"10.1111\/pde.13239","type":"journal-article","created":{"date-parts":[[2017,9,8]],"date-time":"2017-09-08T11:20:49Z","timestamp":1504869649000},"source":"Crossref","is-referenced-by-count":11,"title":["Adams\u2013Oliver Syndrome Type 2 in Association with Compound Heterozygous <i><scp>DOCK<\/scp>6<\/i> Mutations"],"prefix":"10.1111","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0059-1982","authenticated-orcid":false,"given":"Krystal M.","family":"Jones","sequence":"first","affiliation":[{"name":"Dell Medical School Dell Children's Medical Center University of Texas at Austin Austin Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annika","family":"Silfvast\u2010Kaiser","sequence":"additional","affiliation":[{"name":"College of Medicine Texas A&amp;M University Bryan Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David R.","family":"Leake","sequence":"additional","affiliation":[{"name":"Dell Medical School Dell Children's Medical Center University of Texas at Austin Austin Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia Z.","family":"Diaz","sequence":"additional","affiliation":[{"name":"Dell Medical School Dell Children's Medical Center University of Texas at Austin Austin Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moise L.","family":"Levy","sequence":"additional","affiliation":[{"name":"Dell Medical School Dell Children's Medical Center University of Texas at Austin Austin Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,9,8]]},"reference":[{"key":"e_1_2_4_2_1","unstructured":"Online Mendelian Inheritance in Man.Johns Hopkins University Baltimore MD. 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