{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T19:32:23Z","timestamp":1780083143709,"version":"3.54.0"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,5,7]]},"DOI":"10.7759\/cureus.59831","type":"journal-article","created":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T18:22:59Z","timestamp":1715106179000},"source":"Crossref","is-referenced-by-count":1,"title":["Phenotypic Features in a New 12q21 Deletion and Its Association With Cardiofaciocutaneous Syndrome"],"prefix":"10.7759","author":[{"given":"Indushree","family":"Manjunath","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arturo","family":"Gamez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anitha","family":"Jagadish","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000731)93:3<219::AID-AJMG12>3.0.CO;2-5","article-title":"Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome","volume":"93","author":"Rauen KA","year":"2000","unstructured":"Rauen KA, Cotter PD, Bitts SM, Cox VA, Golabi M. Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome. Am J Med Genet. 2000, 93:219-22. 10.1002\/1096-8628(20000731)93:3&lt;219::AID-AJMG12&gt;3.0.CO;2-5","journal-title":"Am J Med Genet"},{"key":"ref2","article-title":"Cardiofaciocutaneous Syndrome","author":"Rauen KA","year":"2007","unstructured":"Rauen KA. Cardiofaciocutaneous Syndrome. Adam MP, Feldman J, Mirzaa GM, et al. (ed): GeneReviews [Internet]. University of Washington, Seattle, WA; 2007."},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.3.187","article-title":"Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12q","volume":"24","author":"Meinecke P","year":"1987","unstructured":"Meinecke P, Meinecke R. Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12q. J Med Genet. 1987, 24:187. 10.1136\/jmg.24.3.187","journal-title":"J Med Genet"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.5.343","article-title":"Deletion (12)(q15q21.2)","volume":"26","author":"Watson MS","year":"1989","unstructured":"Watson MS, McAllister-Barton L, Mahoney MJ, Breg WR. Deletion (12)(q15q21.2). J Med Genet. 1989, 26:343-4. 10.1136\/jmg.26.5.343","journal-title":"J Med Genet"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.057653","article-title":"Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders","volume":"45","author":"Nystr\u00f6m AM","year":"2008","unstructured":"Nystr\u00f6m AM, Ekvall S, Berglund E, et al.. Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. J Med Genet. 2008, 45:500-6. 10.1136\/jmg.2008.057653","journal-title":"J Med Genet"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30867","article-title":"Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization","volume":"138","author":"Klein OD","year":"2005","unstructured":"Klein OD, Cotter PD, Schmidt AM, et al.. Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization. Am J Med Genet A. 2005, 138:349-54. 10.1002\/ajmg.a.30867","journal-title":"Am J Med Genet A"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30693","article-title":"Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate region","volume":"136","author":"James PA","year":"2005","unstructured":"James PA, Oei P, Ng D, Kannu P, Aftimos S. Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate region. Am J Med Genet A. 2005, 136:12-6. 10.1002\/ajmg.a.30693","journal-title":"Am J Med Genet A"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61734","article-title":"12q21 deletion syndrome: narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A","volume":"182","author":"Niclass T","year":"2020","unstructured":"Niclass T, Le Guyader G, Beneteau C, et al.. 12q21 deletion syndrome: narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A. Am J Med Genet A. 2020, 182:2133-8. 10.1002\/ajmg.a.61734","journal-title":"Am J Med Genet A"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0092695","article-title":"LIN7A depletion disrupts cerebral cortex development, contributing to intellectual disability in 12q21-deletion syndrome","volume":"9","author":"Matsumoto A","year":"2014","unstructured":"Matsumoto A, Mizuno M, Hamada N, et al.. LIN7A depletion disrupts cerebral cortex development, contributing to intellectual disability in 12q21-deletion syndrome. PLoS One. 2014, 9:e92695. 10.1371\/journal.pone.0092695","journal-title":"PLoS One"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.3390\/children9101439","article-title":"SYT1-associated neurodevelopmental disorder: a narrative review","volume":"9","author":"Riggs E","year":"2022","unstructured":"Riggs E, Shakkour Z, Anderson CL, Carney PR. SYT1-associated neurodevelopmental disorder: a narrative review. Children (Basel). 2022, 9:1439. 10.3390\/children9101439","journal-title":"Children (Basel)"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.12.004","article-title":"Loss-of-function variants in PPP1R12A: from isolated sex reversal to holoprosencephaly spectrum and urogenital malformations","volume":"106","author":"Hughes JJ","year":"2020","unstructured":"Hughes JJ, Alkhunaizi E, Kruszka P, et al.. Loss-of-function variants in PPP1R12A: from isolated sex reversal to holoprosencephaly spectrum and urogenital malformations. Am J Hum Genet. 2020, 106:121-8. 10.1016\/j.ajhg.2019.12.004","journal-title":"Am J Hum Genet"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/244801-phenotypic-features-in-a-new-12q21-deletion-and-its-association-with-cardiofaciocutaneous-syndrome","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T18:23:02Z","timestamp":1715106182000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/244801-phenotypic-features-in-a-new-12q21-deletion-and-its-association-with-cardiofaciocutaneous-syndrome"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,7]]},"references-count":11,"URL":"https:\/\/doi.org\/10.7759\/cureus.59831","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,5,7]]}}}