{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T07:28:32Z","timestamp":1792740512463,"version":"4.5.0"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,11,30]],"date-time":"2020-11-30T00:00:00Z","timestamp":1606694400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>3M syndrome is a rare autosomal recessive genetic disorder characterized by severe growth retardation, dysmorphic facial features, skeletal dysplasia, and normal intelligence. Variants in <jats:italic>CUL7<\/jats:italic>, <jats:italic>OBSL1<\/jats:italic>, and <jats:italic>CCDC8<\/jats:italic> genes have been reported to be responsible for this syndrome. In this study, the clinical and molecular findings of four 3M syndrome cases from three families are presented. All cases had growth retardation, relative macrocephaly, and typical dysmorphic facial features. Their neurological developments were normal. Sequencing of <jats:italic>CUL7<\/jats:italic>, <jats:italic>OBSL1<\/jats:italic>, and <jats:italic>CCDC8<\/jats:italic> genes revealed two different novel homozygous variants in <jats:italic>CUL7<\/jats:italic> in Families 1 and 3 and a previously reported homozygous pathogenic variant in <jats:italic>OBSL1<\/jats:italic> in Family 2. In conclusion, a comprehensive dysmorphological evaluation should be obtained in individuals presenting with short stature and in such individuals with typical facial and skeletal findings, 3M syndrome should be considered. Our report expands the genotype of 3M syndrome and emphasizes the importance of thorough physical and dysmorphological examination.<\/jats:p>","DOI":"10.1002\/ajmg.a.61989","type":"journal-article","created":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T07:24:51Z","timestamp":1606807491000},"page":"461-468","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["A rare cause of syndromic short stature: <scp>3M<\/scp> syndrome in three families"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0657-2408","authenticated-orcid":false,"given":"Esra","family":"Isik","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Department of Pediatric Genetics Ege University  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2545-4669","authenticated-orcid":false,"given":"Duygu","family":"Arican","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Medical Genetics Ege University  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1142-3872","authenticated-orcid":false,"given":"Tahir","family":"Atik","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatric Genetics Ege University  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0282-4578","authenticated-orcid":false,"given":"Joo Enn","family":"Ooi","sequence":"additional","affiliation":[{"name":"University of Manchester, School of Medicine  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1330-6397","authenticated-orcid":false,"given":"Sukran","family":"Darcan","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatric Endocrinology Ege University  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7037-2713","authenticated-orcid":false,"given":"Samim","family":"Ozen","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatric Endocrinology Ege University  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-7766","authenticated-orcid":false,"given":"Pelin Ozlem","family":"Simsek Kiper","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Hacettepe University  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6577-5542","authenticated-orcid":false,"given":"Eda","family":"Utine","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Hacettepe University  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9037-5599","authenticated-orcid":false,"given":"Ozgur","family":"Cogulu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatric Genetics Ege University  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7542-7787","authenticated-orcid":false,"given":"Ferda","family":"Ozkinay","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatric Genetics Ege University  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,11,30]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2012.04428.x"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1001025"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2012-0239"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.252646399"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2214.2008.00813.x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.v3i3.30"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.028"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.021"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1628"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21150"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2010.08.015"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.08.016"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.3238"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"issue":"5","key":"e_1_2_8_16_1","first-page":"39","article-title":"The 3\u2010M syndrome: A heritable low birthweight dwarfism","volume":"11","author":"Miller J. 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