{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T18:01:45Z","timestamp":1780336905114,"version":"3.54.1"},"reference-count":25,"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\/501100001407","name":"Department of Biotechnology , Ministry of Science and Technology","doi-asserted-by":"publisher","award":["BT\/PR3193\/MED\/12\/521\/2011"],"award-info":[{"award-number":["BT\/PR3193\/MED\/12\/521\/2011"]}],"id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["BMS 54\/2\/2013"],"award-info":[{"award-number":["BMS 54\/2\/2013"]}],"id":[{"id":"10.13039\/501100001411","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>\n                    <jats:label\/>\n                    <jats:p>\n                      Intellectual disability (ID) refers to deficits in mental abilities, social behavior, and motor skills to perform activities of daily living as compared to peers. Numerous genetic and environmental factors may be responsible for ID. We report on elucidation of molecular basis for syndromic ID associated with ptosis, polydactyly, and MRI features suggestive of Joubert syndrome using homozygosity mapping followed by exome sequencing. The analysis revealed a novel synonymous variation p.T293T (c.879G&gt;A) which leads to a splicing defect in\n                      <jats:italic>ARMC9<\/jats:italic>\n                      gene. The variant is present in conserved region of ARM domain of\n                      <jats:italic>ARMC9<\/jats:italic>\n                      protein, which is predicted to form a platform for protein interaction. This domain is likely to be altered in patient due to splicing defect caused by this synonymous variation. Our report of variant in\n                      <jats:italic>ARMC9<\/jats:italic>\n                      Leading to Joubert syndrome phenotype (JS30), elucidates the genetic heterogeneity of Joubert syndrome, and expands the gene list for ciliopathies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.38537","type":"journal-article","created":{"date-parts":[[2017,11,21]],"date-time":"2017-11-21T00:42:26Z","timestamp":1511224946000},"page":"34-40","source":"Crossref","is-referenced-by-count":16,"title":["Whole exome sequencing reveals a mutation in\n                    <i>ARMC9<\/i>\n                    as a cause of mental retardation, ptosis, and polydactyly"],"prefix":"10.1002","volume":"176","author":[{"given":"Anjana","family":"Kar","sequence":"first","affiliation":[{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics Hyderabad India"},{"name":"Graduate Studies Manipal University, Manipal Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6624-082X","authenticated-orcid":false,"given":"Shubha R.","family":"Phadke","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences Lucknow India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3318-8268","authenticated-orcid":false,"given":"Aneek","family":"Das Bhowmik","sequence":"additional","affiliation":[{"name":"Graduate Studies Manipal University, Manipal 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_8_2_1","first-page":"1585","article-title":"Loss of function mutation in APC2 causes Sotos syndrome features","volume":"10","author":"Almuriekhi M.","year":"2015","journal-title":"CellReports"},{"issue":"9","key":"e_1_2_8_3_1","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/S0962-8924(03)00167-3","article-title":"Armadillo repeat proteins: Beyond the animal kingdom","volume":"13","author":"Coates J. 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