{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T13:40:41Z","timestamp":1770990041776,"version":"3.50.1"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,12]]},"DOI":"10.7759\/cureus.66692","type":"journal-article","created":{"date-parts":[[2024,8,12]],"date-time":"2024-08-12T14:13:21Z","timestamp":1723472001000},"source":"Crossref","is-referenced-by-count":3,"title":["A Case Report of Verheij Syndrome"],"prefix":"10.7759","author":[{"given":"Dhiran","family":"Sivasubramanian","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahila","family":"Ayyavoo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-023-01527-1","article-title":"Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature","volume":"32","author":"Hoogenboom A","year":"2024","unstructured":"Hoogenboom A, Falix FA, van der Laan L, Kerkhof J, Alders M, Sadikovic B, van Haelst MM. Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature. Eur J Hum Genet. 2024, 32:435-9. 10.1038\/s41431-023-01527-1","journal-title":"Eur J Hum Genet"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.05.006","article-title":"An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions","volume":"52","author":"Verheij JB","year":"2009","unstructured":"Verheij JB, de Munnik SA, Dijkhuizen T, et al.. An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. Eur J Med Genet. 2009, 52:353-7. 10.1016\/j.ejmg.2009.05.006","journal-title":"Eur J Med Genet"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.27","article-title":"PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features","volume":"25","author":"Low KJ","year":"2017","unstructured":"Low KJ, Ansari M, Abou Jamra R, et al.. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. Eur J Hum Genet. 2017, 25:552-9. 10.1038\/ejhg.2017.27","journal-title":"Eur J Hum Genet"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.gimo.2024.101312","article-title":"The diagnostic journey of Mexican patients with Verheij syndrome","volume":"2","author":"Cifuentes-Uribe K","year":"2024","unstructured":"Cifuentes-Uribe K, Reyes-De La Rosa A, Moreno-Salgado R, et al.. The diagnostic journey of Mexican patients with Verheij syndrome. Genetics in Medicine Open. 2024, 2:418. 10.1016\/j.gimo.2024.101312","journal-title":"Genetics in Medicine Open"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-018-0421-3","article-title":"Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature","volume":"11","author":"Xu Q","year":"2018","unstructured":"Xu Q, Li CY, Wang Y, Li HP, Wu BB, Jiang YH, Xu X. Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature. BMC Med Genomics. 2018, 11:92. 10.1186\/s12920-018-0421-3","journal-title":"BMC Med Genomics"},{"key":"ref6","article-title":"Identification of a new variant of PUF60 gene: case presentation and literature review","volume":"1","author":"TO DO","year":"2021","unstructured":"TO DO, UR R, BA N, et al.. Identification of a new variant of PUF60 gene: case presentation and literature review. Cancer Diagn Progn. 2021, 1:213-9.","journal-title":"Cancer Diagn Progn"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2006.tb02378.x","article-title":"WHO Child Growth Standards based on length\/height, weight and age","volume":"450","year":"2006","unstructured":"WHO Child Growth Standards based on length\/height, weight and age. Acta Paediatr Suppl. 2006, 450.76-85. 10.1111\/j.1651-2227.2006.tb02378.x","journal-title":"Acta Paediatr Suppl"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.580314","article-title":"Evaluation of bone age in children: a mini-review","volume":"9","author":"Cavallo F","year":"2021","unstructured":"Cavallo F, Mohn A, Chiarelli F, Giannini C. Evaluation of bone age in children: a mini-review. Front Pediatr. 2021, 9:580314. 10.3389\/fped.2021.580314","journal-title":"Front Pediatr"},{"key":"ref9","article-title":"Noonan syndrome","author":"Allen MJ","year":"2024","unstructured":"Allen MJ, Sharma S. Noonan syndrome. StatPearls [Internet]. StatPearls Publishing, Treasure Island (FL); 2024."},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.yapd.2022.03.005","article-title":"Clinical indications for growth hormone therapy","volume":"69","author":"Danowitz M","year":"2022","unstructured":"Danowitz M, Grimberg A. Clinical indications for growth hormone therapy. Adv Pediatr. 2022, 69:203-17. 10.1016\/j.yapd.2022.03.005","journal-title":"Adv Pediatr"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(95)70232-6","article-title":"Benign intracranial hypertension in children with growth hormone deficiency treated with growth hormone","volume":"126","author":"Malozowski S","year":"1995","unstructured":"Malozowski S, Tanner LA, Wysowski DK, Fleming GA, Stadel BV. Benign intracranial hypertension in children with growth hormone deficiency treated with growth hormone. J Pediatr. 1995, 126:996-9. 10.1016\/s0022-3476(95)70232-6","journal-title":"J Pediatr"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63313","article-title":"PUF60-related developmental disorder: a case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants","volume":"191","author":"Grimes H","year":"2023","unstructured":"Grimes H, Ansari M, Ashraf T, et al.. PUF60-related developmental disorder: a case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants. Am J Med Genet A. 2023, 191:2610-22. 10.1002\/ajmg.a.63313","journal-title":"Am J Med Genet A"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62950","article-title":"The diverse pleiotropic effects of spliceosomal protein PUF60: a case series of Verheij syndrome","volume":"188","author":"Fennell AP","year":"2022","unstructured":"Fennell AP, Baxter AE, Berkovic SF, et al.. The diverse pleiotropic effects of spliceosomal protein PUF60: a case series of Verheij syndrome. Am J Med Genet A. 2022, 188:3432-47. 10.1002\/ajmg.a.62950","journal-title":"Am J Med Genet A"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.3390\/ijms25042053","article-title":"Novel genetic and phenotypic expansion in ameliorated PUF60-related disorders","volume":"25","author":"Baum E","year":"2024","unstructured":"Baum E, Huang W, Vincent-Delorme C, Brunelle P, Antebi A, Dafsari HS. Novel genetic and phenotypic expansion in ameliorated PUF60-related disorders. Int J Mol Sci. 2024, 25:2053. 10.3390\/ijms25042053","journal-title":"Int J Mol Sci"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2023.148092","article-title":"Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus","volume":"897","author":"Miao M","year":"2024","unstructured":"Miao M, Wang J, Guo C, Su X, Sun L, Lu S. Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus. Gene. 2024, 897:148092. 10.1016\/j.gene.2023.148092","journal-title":"Gene"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/279058-a-case-report-of-verheij-syndrome","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,12]],"date-time":"2024-08-12T14:13:24Z","timestamp":1723472004000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/279058-a-case-report-of-verheij-syndrome"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,12]]},"references-count":15,"URL":"https:\/\/doi.org\/10.7759\/cureus.66692","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,8,12]]}}}