{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T07:55:19Z","timestamp":1781769319537,"version":"3.54.5"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T00:00:00Z","timestamp":1778198400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T00:00:00Z","timestamp":1778198400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"DOI":"10.1007\/s00431-026-06982-8","type":"journal-article","created":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T04:29:27Z","timestamp":1778214567000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A multidisciplinary paediatric endocrine genetic clinic: experience from a single tertiary centre"],"prefix":"10.1007","volume":"185","author":[{"given":"E.","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"McGowan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. G.","family":"Shaikh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,5,8]]},"reference":[{"issue":"2","key":"6982_CR1","doi-asserted-by":"publisher","first-page":"90","DOI":"10.6065\/apem.2017.22.2.90","volume":"22","author":"M Fukami","year":"2017","unstructured":"Fukami M, Miyado M (2017) Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders. Ann Pediatr Endocrinol Metab 22(2):90","journal-title":"Ann Pediatr Endocrinol Metab"},{"issue":"7676","key":"6982_CR2","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1038\/nature24286","volume":"550","author":"J Shendure","year":"2017","unstructured":"Shendure J, Balasubramanian S, Church GM, Gilbert W, Rogers J, Schloss JA et al (2017Oct 19) DNA sequencing at 40: past, present and future. Nature 550(7676):345\u2013353","journal-title":"Nature"},{"issue":"18","key":"6982_CR3","doi-asserted-by":"publisher","first-page":"1870","DOI":"10.1001\/jama.2014.14601","volume":"312","author":"Y Yang","year":"2014","unstructured":"Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y et al (2014Nov 12) Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312(18):1870","journal-title":"JAMA"},{"issue":"5","key":"6982_CR4","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1111\/cen.14053","volume":"91","author":"PJ Newey","year":"2019","unstructured":"Newey PJ (2019) Clinical genetic testing in endocrinology: current concepts and contemporary challenges. Clin Endocrinol (Oxf) 91(5):587\u2013607","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"2","key":"6982_CR5","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1038\/nrg.2017.101","volume":"19","author":"NJ Timpson","year":"2018","unstructured":"Timpson NJ, Greenwood CMT, Soranzo N, Lawson DJ, Richards JB (2018Feb) Genetic architecture: the shape of the genetic contribution to human traits and disease. Nat Rev Genet 19(2):110\u2013124","journal-title":"Nat Rev Genet"},{"issue":"1","key":"6982_CR6","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1186\/s12913-018-2990-4","volume":"18","author":"L Rosell","year":"2018","unstructured":"Rosell L, Alexandersson N, Hagberg O, Nilbert M (2018Dec) Benefits, barriers and opinions on multidisciplinary team meetings: a survey in Swedish cancer care. BMC Health Serv Res 18(1):249","journal-title":"BMC Health Serv Res"},{"key":"#cr-split#-6982_CR7.1","doi-asserted-by":"crossref","unstructured":"Mark JR, Gomella LG (2022) Creating a multidisciplinary clinic. In: Stratton KL, Morgans AK, eds. Urologic oncology [Internet]. Cham: Springer International Publishing","DOI":"10.1007\/978-3-030-89891-5_1"},{"key":"#cr-split#-6982_CR7.2","unstructured":"[cited 2025 Mar 10]. p. 1-14. Available from:\u00a0https:\/\/link.springer.com\/10.1007\/978-3-030-89891-5_1.\u00a0Accessed 24 Mar 2026"},{"issue":"5","key":"6982_CR8","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015May) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405\u2013424","journal-title":"Genet Med"},{"issue":"3","key":"6982_CR9","doi-asserted-by":"publisher","first-page":"S160","DOI":"10.1016\/j.gim.2022.01.287","volume":"24","author":"Y Ben Moshe","year":"2022","unstructured":"Ben Moshe Y, Ladha F, Sisley S (2022Mar) eP252: A multidisciplinary endocrine-genetic obesity clinic for children: Diagnostic utility and insights. Genet Med 24(3):S160","journal-title":"Genet Med"},{"issue":"7","key":"6982_CR10","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1093\/qjmed\/hcx030","volume":"110","author":"S Alkanderi","year":"2017","unstructured":"Alkanderi S, Yates LM, Johnson SA, Sayer JA (2017July) Lessons learned from a multidisciplinary renal genetics clinic. QJM Int J Med 110(7):453\u2013457","journal-title":"QJM Int J Med"},{"issue":"1","key":"6982_CR11","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1186\/s12887-025-05437-7","volume":"25","author":"Q He","year":"2025","unstructured":"He Q, Deng Y, Xu L, Xu Z, Ding Y, Wu M (2025Feb 4) Recombinant human growth hormone treatment of Floating-Harbor syndrome: a case report and literature review. BMC Pediatr 25(1):97","journal-title":"BMC Pediatr"},{"key":"6982_CR12","unstructured":"Innes AM, Dyment DA. SHORT Syndrome. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, eds. (1993) GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; [cited 2025 Apr 23]. Available from: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK201365\/.\u00a0Accessed 24 Mar 2026"},{"issue":"1","key":"6982_CR13","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1186\/s13023-022-02358-x","volume":"17","author":"A Bauskis","year":"2022","unstructured":"Bauskis A, Strange C, Molster C, Fisher C (2022Dec) The diagnostic odyssey: insights from parents of children living with an undiagnosed condition. Orphanet J Rare Dis 17(1):233","journal-title":"Orphanet J Rare Dis"},{"key":"6982_CR14","unstructured":"Jefferies N. GeNotes. [cited 2025 Apr 23]. Diagnostic odyssey in rare disease \u2014 knowledge hub. Available from: https:\/\/www.genomicseducation.hee.nhs.uk\/genotes\/knowledge-hub\/the-diagnostic-odyssey-in-rare-disease\/.\u00a0Accessed 24 Mar 2026"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-026-06982-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00431-026-06982-8","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-026-06982-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T07:33:14Z","timestamp":1781767994000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00431-026-06982-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,8]]},"references-count":15,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2026,6]]}},"alternative-id":["6982"],"URL":"https:\/\/doi.org\/10.1007\/s00431-026-06982-8","relation":{},"ISSN":["1432-1076"],"issn-type":[{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,8]]},"assertion":[{"value":"24 December 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 March 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 April 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 May 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"365"}}