{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T01:28:00Z","timestamp":1773365280037,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,8,8]],"date-time":"2022-08-08T00:00:00Z","timestamp":1659916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81871177"],"award-info":[{"award-number":["81871177"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Split hand\/foot malformation (SHFM) is a clinically heterogeneous genetic disorder, which is mainly characterized by median clefts of the hand\/feet due to the absence of the central digital rays. Several subgroups of SHFM have been identified, including SHFM1 to SHFM6. SHFM3 is an autosomal dominant disease, which has been identified to associate with a 500\u2009kb microduplication at 10q24. The duplication involved several genes, including\n                    <jats:italic>LBX1<\/jats:italic>\n                    ,\n                    <jats:italic>BTRC<\/jats:italic>\n                    ,\n                    <jats:italic>POLL<\/jats:italic>\n                    ,\n                    <jats:italic>FBXW4<\/jats:italic>\n                    , and so forth. In the study, using trio clinical exome sequencing, a 120\u2009kb microduplication containing only\n                    <jats:italic>BTRC<\/jats:italic>\n                    were identified in a Chinese family affected with SHFM3. Further confirmation was performed using qRT\u2010PCR assay, which showed that the 120\u2009kb duplication was co\u2010segregated with SHFM phenotypes in the family. It is the smallest duplication which has ever been reported relating to SHFM3. Furthermore, the transcription levels of\n                    <jats:italic>BTRC<\/jats:italic>\n                    mRNA in lymphocyte of the proband was significantly higher than that in the healthy control. The study provided evidence for the limb malformation caused by abnormal\n                    <jats:italic>BTRC<\/jats:italic>\n                    expression, and suggested that next generation sequencing could provide more precise diagnosis to SHFM3 patients.\n                  <\/jats:p>","DOI":"10.1111\/cge.14204","type":"journal-article","created":{"date-parts":[[2022,7,30]],"date-time":"2022-07-30T23:38:16Z","timestamp":1659224296000},"page":"451-456","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Microduplication of\n                    <scp>\n                      <i>BTRC<\/i>\n                    <\/scp>\n                    detected in a Chinese family with split hand\/foot malformation type 3"],"prefix":"10.1111","volume":"102","author":[{"given":"Liyan","family":"Qiu","sequence":"first","affiliation":[{"name":"Department of Fetal Medicine and Prenatal Diagnosis Zhujiang Hospital, Southern Medical University  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caimin","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Basic Medical Sciences, Southern Medical University  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guiyun","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine and Prenatal Diagnosis Zhujiang Hospital, Southern Medical University  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tuyin","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine and Prenatal Diagnosis Zhujiang Hospital, Southern Medical University  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine and Prenatal Diagnosis Zhujiang Hospital, Southern Medical University  Guangzhou China"},{"name":"Nanfang Hospital of Southern Medical University  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,8,8]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/1753193418807375"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg212"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2016.05.035"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/microarrays5010002"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.1003\u20109406.2020.04.026"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2017.56"},{"issue":"6","key":"e_1_2_10_8_1","first-page":"754","article-title":"Microduplications of 10q24 detected in two chinese patients with split\u2010hand\/foot malformation type 3","volume":"47","author":"Xiang 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