{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:44Z","timestamp":1786976804984,"version":"build-2736575974"},"reference-count":21,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,6,19]],"date-time":"2021-06-19T00:00:00Z","timestamp":1624060800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2021,6,19]],"date-time":"2021-06-19T00:00:00Z","timestamp":1624060800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Tel Hashomer camptodactyly syndrome is a long\u2010known entity characterized by camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases. Currently, the genetic basis for this disorder is unknown, thus there is a possibility that this clinical presentation may be contained within another genetic diagnosis. Here, we present a multiplex family with a previous clinical diagnosis of Tel Hashomer camptodactyly syndrome. Whole exome sequencing and pedigree\u2010based analysis revealed a novel hemizygous truncating variant c.269_270dup (p.Phe91Alafs*34) in the\n                    <jats:italic>FGD1<\/jats:italic>\n                    gene (NM_004463.3) in all three symptomatic patients, congruous with a diagnosis of Aarskog\u2013Scott syndrome. Our report adds to the limited data on Aarskog\u2013Scott syndrome, and emphasizes the importance of unbiased comprehensive molecular testing toward establishing a diagnosis for genetic syndromes with unknown genetic basis.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62401","type":"journal-article","created":{"date-parts":[[2021,6,19]],"date-time":"2021-06-19T03:46:04Z","timestamp":1624074364000},"page":"3161-3166","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A novel truncating variant in the\n                    <scp>\n                      <i>FGD1<\/i>\n                    <\/scp>\n                    gene associated with Aarskog\u2013Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly"],"prefix":"10.1002","volume":"185","author":[{"given":"Irena","family":"Kessel","sequence":"first","affiliation":[{"name":"Department of Neonatology Carmel Medical Center  Haifa Israel"},{"name":"Ruth and Bruce Rappaport Faculty of Medicine Technion \u2010 Israel Institute of Technology  Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alina","family":"German","sequence":"additional","affiliation":[{"name":"Ruth and Bruce Rappaport Faculty of Medicine Technion \u2010 Israel Institute of Technology  Haifa Israel"},{"name":"Pediatric Endocrinology Bnei Zion Medical Center  Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir","family":"Peleg","sequence":"additional","affiliation":[{"name":"Genetics Institute, Carmel Medical Center  Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Regeneron Genetics Center","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Gonzaga\u2010Jauregui","sequence":"additional","affiliation":[{"name":"Regeneron Genetics Center  Tarrytown New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamar","family":"Paperna","sequence":"additional","affiliation":[{"name":"The Genetics Institute, Rambam Health Care Campus  Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Ekhilevitch","sequence":"additional","affiliation":[{"name":"The Genetics Institute, Rambam Health Care Campus  Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7005-3621","authenticated-orcid":false,"given":"Alina","family":"Kurolap","sequence":"additional","affiliation":[{"name":"The Genetics Institute, Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hagit","family":"Baris Feldman","sequence":"additional","affiliation":[{"name":"The Genetics Institute, Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0883-2130","authenticated-orcid":false,"given":"Lena","family":"Sagi\u2010Dain","sequence":"additional","affiliation":[{"name":"Ruth and Bruce Rappaport Faculty of Medicine Technion \u2010 Israel Institute of Technology  Haifa Israel"},{"name":"Genetics Institute, Carmel Medical Center  Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,6,19]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(70)80247-5"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.7860\/JCDR\/2016\/22180.8982"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32835b6dc4"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31733"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.2.136"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.9.2.203"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0177(2000)9999:9999<::AID-DVDY1015>3.0.CO;2-F"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a000943"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36249"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-019-0592-6"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30736"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36826"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201081"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33199"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"issue":"6","key":"e_1_2_9_17_1","first-page":"240","article-title":"Unusual facies, joint hypermobility, genital anomaly and short stature: A new dysmorphic syndrome","volume":"7","author":"Scott C. 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