{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T00:46:37Z","timestamp":1776127597028,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2015,8,18]],"date-time":"2015-08-18T00:00:00Z","timestamp":1439856000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003009","name":"Science and Technology Development Fund","doi-asserted-by":"publisher","award":["5253"],"award-info":[{"award-number":["5253"]}],"id":[{"id":"10.13039\/501100003009","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Robinow syndrome (RS) is a rare genetic disorder characterized by limb shortening, genital hypoplasia, and craniofacial\/orodental abnormalities. The syndrome follows both autosomal dominant and recessive patterns of inheritance with similar phenotypic presentation and overlapping features. Autosomal recessive Robinow syndrome (ARRS) is caused by mutations in the <jats:italic>ROR2<\/jats:italic> gene. Here, we present the clinical, radiological and molecular findings of 11 Egyptian patients from 7 unrelated consanguineous families with clinical features of ARRS. Mutation analyses of <jats:italic>ROR2<\/jats:italic> gene identified five pathogenic mutations distributed all over the gene. The identified mutations included four novel (G326A, D166H, S677F, and R528Q) and one previously reported (Y192D). Our results extend the number of <jats:italic>ROR2<\/jats:italic> mutations identified so far, suggest a founder effect in the Egyptian population, and emphasize the important role of genetic testing in proper counseling and patients' management. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37287","type":"journal-article","created":{"date-parts":[[2015,8,18]],"date-time":"2015-08-18T17:20:22Z","timestamp":1439918422000},"page":"3054-3061","source":"Crossref","is-referenced-by-count":10,"title":["Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel <i>ROR2<\/i> gene mutations"],"prefix":"10.1002","volume":"167","author":[{"given":"Mona","family":"Aglan","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Division of Human Genetics and Genome Research Division National Research Centre Cairo Egypt"},{"name":"Centre of Excellence for Human Genetics National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalda","family":"Amr","sequence":"additional","affiliation":[{"name":"Centre of Excellence for Human Genetics National Research Centre Cairo Egypt"},{"name":"Department of Medical Molecular Genetics Division of Human Genetics and Genome Research National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samira","family":"Ismail","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Division of Human Genetics and Genome Research Division National Research Centre Cairo Egypt"},{"name":"Centre of Excellence for Human Genetics National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adel","family":"Ashour","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Division of Human Genetics and Genome Research Division National Research Centre Cairo Egypt"},{"name":"Centre of Excellence for Human Genetics National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghada A.","family":"Otaify","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Division of Human Genetics and Genome Research Division National Research Centre Cairo Egypt"},{"name":"Centre of Excellence for Human Genetics National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mennat Allah I.","family":"Mehrez","sequence":"additional","affiliation":[{"name":"Centre of Excellence for Human Genetics National Research Centre Cairo Egypt"},{"name":"Department of Orodental Genetics, Division of Human Genetics and Genome Research Division National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eman H. A.","family":"Aboul\u2010Ezz","sequence":"additional","affiliation":[{"name":"Centre of Excellence for Human Genetics National Research Centre Cairo Egypt"},{"name":"Department of Basic Oral Dental Science Division of Oral and Dental Research National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona","family":"El\u2010Ruby","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Division of Human Genetics and Genome Research Division National Research Centre Cairo Egypt"},{"name":"Centre of Excellence for Human Genetics National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inas","family":"Mazen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Division of Human Genetics and Genome Research Division National Research Centre Cairo Egypt"},{"name":"Centre of Excellence for Human Genetics National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed S.","family":"Abdel\u2010Hamid","sequence":"additional","affiliation":[{"name":"Centre of Excellence for Human Genetics National Research Centre Cairo Egypt"},{"name":"Department of Medical Molecular Genetics Division of Human Genetics and Genome Research National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samia A.","family":"Temtamy","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Division of Human Genetics and Genome Research Division National Research Centre Cairo Egypt"},{"name":"Centre of Excellence for Human Genetics National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,8,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/78107"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02552.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0409-0"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.4.350"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199307000-00002"},{"key":"e_1_2_6_7_1","first-page":"543","article-title":"Two cases of the Robinowsyndrome with mental retardation","volume":"44","author":"Baxova A","year":"1989","journal-title":"Cesk 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