{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T03:45:26Z","timestamp":1792813526634,"version":"4.5.0"},"reference-count":10,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,2,15]],"date-time":"2024-02-15T00:00:00Z","timestamp":1707955200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100010803","name":"Department of Biotechnology, Government of West Bengal","doi-asserted-by":"publisher","award":["BTI\/AAQ\/01\/CDFD\u2010Flagship\/2019"],"award-info":[{"award-number":["BTI\/AAQ\/01\/CDFD\u2010Flagship\/2019"]}],"id":[{"id":"10.13039\/501100010803","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001409","name":"Department of Science and Technology, Ministry of Science and Technology, India","doi-asserted-by":"publisher","award":["SB\/SO\/HS\/005\/2014"],"award-info":[{"award-number":["SB\/SO\/HS\/005\/2014"]}],"id":[{"id":"10.13039\/501100001409","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>PRKACA\u2010related, atrial defects\u2010polydactyly\u2010multiple congenital malformation syndrome is a recently described skeletal ciliopathy, which is caused by disease\u2010causing variants in <jats:italic>PRKACA.<\/jats:italic> The primary phenotypic description includes atrial septal defects, and limb anomalies including polydactyly and short limbs. To date, only four molecularly proven patients have been reported in the literature with a recurrent variant, c.409G&gt;A p.Gly137Arg in <jats:italic>PRKACA<\/jats:italic>. In this study, we report the fifth affected individual with the same variant and review the clinical features and radiographic findings of this rare syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.63566","type":"journal-article","created":{"date-parts":[[2024,2,15]],"date-time":"2024-02-15T10:40:03Z","timestamp":1707993603000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<scp>PRKACA<\/scp>\u2010related, atrial defects\u2010polydactyly\u2010multiple congenital malformation syndrome in an Indian patient"],"prefix":"10.1002","volume":"194","author":[{"given":"Sivagamy","family":"Sithambaram","sequence":"first","affiliation":[{"name":"Manchester Universities Hospital, NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3343-3262","authenticated-orcid":false,"given":"Prince","family":"Jacob","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kausthubham","family":"Neethukrishna","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gandham SriLakshmi","family":"Bhavani","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal Karnataka 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 &amp; Diagnostics  Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitesh","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopaedics, Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0139-8239","authenticated-orcid":false,"given":"Katta Mohan","family":"Girisha","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal Karnataka India"},{"name":"Department of Genetics, College of Medicine and Health Sciences Sultan Qaboos University  Muscat Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,2,15]]},"reference":[{"key":"e_1_2_10_1_2_1","volume-title":"Ellis\u2010van Creveld Syndrome","author":"Da Silva J. 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