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Cranial MRI revealed a kinked corpus body and small cerebellar vermis. Molecular analysis uncovered a homozygous c.673C\u2009&gt;\u2009G (p.Q225E) mutation in <jats:italic>ALX4<\/jats:italic> gene. We compare the relatively mild phenotype in the patient to the more marked phenotype described in other patients with homozygous <jats:italic>ALX4<\/jats:italic> mutations, and to the phenotypes in patients with mutations in other <jats:italic>ALX<\/jats:italic> genes. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34390","type":"journal-article","created":{"date-parts":[[2011,12,3]],"date-time":"2011-12-03T18:47:47Z","timestamp":1322938067000},"page":"236-244","source":"Crossref","is-referenced-by-count":31,"title":["Mild nasal malformations and parietal foramina caused by homozygous <i>ALX4<\/i> mutations"],"prefix":"10.1002","volume":"158A","author":[{"given":"H\u00fclya","family":"Kayserili","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Altunoglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Ozgur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Basaran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.O.","family":"Uyguner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,12,2]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bti770"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.1.291"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/protein\/6.1.37"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq662"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1252-1"},{"key":"e_1_2_7_7_1","unstructured":"FriedbergT PentaziS BlaserS MurphyK ChitayatD. 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