{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T13:43:20Z","timestamp":1766843000139,"version":"3.48.0"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,27]]},"DOI":"10.7759\/cureus.100178","type":"journal-article","created":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T13:39:39Z","timestamp":1766842779000},"source":"Crossref","is-referenced-by-count":0,"title":["Novel Ataxia Telangiectasia and Rad3-Related Protein (ATR) Phenotype: Marfanoid Appearance, Generalized Hypermobility, Gait Imbalance, and Poor Wound Healing: A Case Report"],"prefix":"10.7759","author":[{"given":"Zoie A","family":"Sadler","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark D","family":"Unger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","article-title":"Selected heritable disorders of connective tissue and disability","author":"Volberding PA","year":"2022","unstructured":"Volberding PA, Spicer CM, Cartaxo T, et al.. Selected heritable disorders of connective tissue and disability. Paul A. Volberding, Carol Mason Spicer, Tom Cartaxo,  and Roberta A. Wedge,  (ed): National Academies Press, Washington DC; 2022."},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.220","article-title":"Hypermobile Ehlers-Danlos syndromes: complex phenotypes, challenging diagnoses, and poorly understood causes","volume":"250","author":"Gensemer C","year":"2021","unstructured":"Gensemer C, Burks R, Kautz S, Judge DP, Lavallee M, Norris RA. Hypermobile Ehlers-Danlos syndromes: complex phenotypes, challenging diagnoses, and poorly understood causes. Dev Dyn. 2021, 250:318-44. 10.1002\/dvdy.220","journal-title":"Dev Dyn"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1590\/s1516-31802010000600009","article-title":"Marfan's syndrome: an overview","volume":"128","author":"Yuan SM","year":"2010","unstructured":"Yuan SM, Jing H. Marfan's syndrome: an overview. Sao Paulo Med J. 2010, 128:360-6. 10.1590\/s1516-31802010000600009","journal-title":"Sao Paulo Med J"},{"key":"ref4","unstructured":"Marfan syndrome. (2024). Accessed. July 22, 2025: https:\/\/medlineplus.gov\/ency\/article\/000418.htm."},{"key":"ref5","unstructured":"Scleroderma. (2024). Accessed. July 22, 2025: https:\/\/medlineplus.gov\/ency\/article\/000429.htm."},{"key":"ref6","unstructured":"Ehlers-Danlos syndrome. (2024). Accessed. July 22, 2025: https:\/\/medlineplus.gov\/ency\/article\/001468.htm."},{"key":"ref7","unstructured":"Clinical manifestations and diagnosis of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder. (2025). Accessed. July 22, 2025: https:\/\/www.uptodate.com\/contents\/clinical-manifestations-and-diagnosis-of-hypermobile-ehlers-danlos-syndrome-and-hyp...."},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.01.007","article-title":"Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome","volume":"90","author":"Tanaka A","year":"2012","unstructured":"Tanaka A, Weinel S, Nagy N, et al.. Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome. Am J Hum Genet. 2012, 90:511-7. 10.1016\/j.ajhg.2012.01.007","journal-title":"Am J Hum Genet"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.5005\/jp-journals-10005-2765","article-title":"Seckel dwarfism-a rare autosomal recessive inherited syndrome: a case report","volume":"17","author":"Tatiya N","year":"2024","unstructured":"Tatiya N, Kesri R, Ukey A. Seckel dwarfism-a rare autosomal recessive inherited syndrome: a case report. Int J Clin Pediatr Dent. 2024, 17:211-5. 10.5005\/jp-journals-10005-2765","journal-title":"Int J Clin Pediatr Dent"},{"key":"ref10","unstructured":"Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome. (2025). Accessed. November 20, 2025: https:\/\/www.orpha.net\/en\/disease\/detail\/313846#:~:text=Source:%20PubMed%20ID%2022341969,Age%20of%20onset:%20Infancy%2...."},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.46747\/cfp.6907490","article-title":"Family physicians: first point of contact, last line of defence","volume":"69","author":"Turner N","year":"2023","unstructured":"Turner N. Family physicians: first point of contact, last line of defence. Can Fam Physician. 2023, 69:490-1. 10.46747\/cfp.6907490","journal-title":"Can Fam Physician"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.168.15.1705","article-title":"Practical barriers to timely primary care access: impact on adult use of emergency department services","volume":"168","author":"Rust G","year":"2008","unstructured":"Rust G, Ye J, Baltrus P, Daniels E, Adesunloye B, Fryer GE. Practical barriers to timely primary care access: impact on adult use of emergency department services. Arch Intern Med. 2008, 168:1705-10. 10.1001\/archinte.168.15.1705","journal-title":"Arch Intern Med"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1136\/emj.2005.033233","article-title":"The emergency room in systemic rheumatic diseases","volume":"23","author":"Slobodin G","year":"2006","unstructured":"Slobodin G, Hussein A, Rozenbaum M, Rosner I. The emergency room in systemic rheumatic diseases. Emerg Med J. 2006, 23:667-71. 10.1136\/emj.2005.033233","journal-title":"Emerg Med J"},{"key":"ref14","unstructured":"Assessing joint hypermobility. (2025). Accessed. July 22, 2025: https:\/\/www.ehlers-danlos.com\/assessing-joint-hypermobility\/#1667832351239-74ce5479-cdb7."},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-17-0465","article-title":"Recommendations for childhood cancer screening and surveillance in DNA repair disorders","volume":"23","author":"Walsh MF","year":"2017","unstructured":"Walsh MF, Chang VY, Kohlmann WK, et al.. Recommendations for childhood cancer screening and surveillance in DNA repair disorders. Clin Cancer Res. 2017, 23:e23-31. 10.1158\/1078-0432.CCR-17-0465","journal-title":"Clin Cancer Res"},{"key":"ref16","unstructured":"OMIM. ATR serine\/threonine kinase. (1996). Accessed: July 22, 2025: https:\/\/www.omim.org\/entry\/601215."},{"key":"ref17","unstructured":"ClinVar. Variation report for NM_001184. 4(ATR): c.1464G>T(p.Glu488Asp). (2025). Accessed: July 22, 2025: https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/RCV001064677.7\/.."},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1086\/303023","article-title":"Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24","volume":"67","author":"Goodship J","year":"2000","unstructured":"Goodship J, Gill H, Carter J, Jackson A, Splitt M, Wright M. Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24. Am J Hum Genet. 2000, 67:498-503. 10.1086\/303023","journal-title":"Am J Hum Genet"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2007.03.002","article-title":"Deletion of the developmentally essential gene ATR in adult mice leads to age-related phenotypes and stem cell loss","volume":"1","author":"Ruzankina Y","year":"2007","unstructured":"Ruzankina Y, Pinzon-Guzman C, Asare A, et al.. Deletion of the developmentally essential gene ATR in adult mice leads to age-related phenotypes and stem cell loss. Cell Stem Cell. 2007, 1:113-26. 10.1016\/j.stem.2007.03.002","journal-title":"Cell Stem Cell"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-019-0574-8","article-title":"Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model","volume":"64","author":"Ichisima J","year":"2019","unstructured":"Ichisima J, Suzuki NM, Samata B, et al.. Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model. J Hum Genet. 2019, 64:445-58. 10.1038\/s10038-019-0574-8","journal-title":"J Hum Genet"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/406931-novel-ataxia-telangiectasia-and-rad3-related-protein-atr-phenotype-marfanoid-appearance-generalized-hypermobility-gait-imbalance-and-poor-wound-healing-a-case-report","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T13:39:40Z","timestamp":1766842780000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/406931-novel-ataxia-telangiectasia-and-rad3-related-protein-atr-phenotype-marfanoid-appearance-generalized-hypermobility-gait-imbalance-and-poor-wound-healing-a-case-report"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,27]]},"references-count":20,"URL":"https:\/\/doi.org\/10.7759\/cureus.100178","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2025,12,27]]}}}