{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T19:03:03Z","timestamp":1780599783420,"version":"3.54.1"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,11,21]],"date-time":"2017-11-21T00:00:00Z","timestamp":1511222400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001843","name":"Science and Engineering Research Board","doi-asserted-by":"publisher","award":["YSS\/2015\/001681"],"award-info":[{"award-number":["YSS\/2015\/001681"]}],"id":[{"id":"10.13039\/501100001843","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":[[2018,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report a family of Indian origin presenting with Tarsal\u2010carpal coalition syndrome (TCC), which is a rare genetic disorder of skeletal abnormalities, inherited in autosomal dominant manner. In this family, three individuals (mother and two children) were found to be similarly affected with slight intrafamilial individual variability in the phenotype. Sanger sequencing revealed a novel heterozygous missense mutation in <jats:italic>NOG<\/jats:italic> gene (NM_005450.4:c.611G&gt;A) in all the affected individuals of the family. Until now only six mutations have been reported in different families affected with TCC syndrome worldwide. This report further delineates the phenotypic spectrum of this rare disorder with the addition of a new variant to the mutation spectrum.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38544","type":"journal-article","created":{"date-parts":[[2017,11,21]],"date-time":"2017-11-21T05:42:58Z","timestamp":1511242978000},"page":"219-224","source":"Crossref","is-referenced-by-count":11,"title":["Tarsal\u2010carpal coalition syndrome: Report of a novel missense mutation in <i>NOG<\/i> gene and phenotypic delineation"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3318-8268","authenticated-orcid":false,"given":"Aneek","family":"Das Bhowmik","sequence":"first","affiliation":[{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijayalakshmi","family":"Salem Ramakumaran","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Nizam's Institute of Medical Sciences Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5929-745X","authenticated-orcid":false,"given":"Ashwin","family":"Dalal","sequence":"additional","affiliation":[{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,11,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.280.5368.1455"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anpedi.2011.12.004"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30152"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30645"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200109000-00004"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-198567060-00010"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/6821"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb00938.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01245"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3703"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.201367598"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.12.10.1438"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21515"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_7_19_1","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1093\/nar\/gks596","article-title":"Primer3 \u2212 new capabilities and interfaces","volume":"40","author":"Untergasser A.","year":"2012","journal-title":"Nucleic Acids Research"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-13-134"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38544","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38544","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T10:45:31Z","timestamp":1695984331000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38544"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,21]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1002\/ajmg.a.38544"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38544","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,11,21]]}}}