{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,3,14]],"date-time":"2024-03-14T00:17:41Z","timestamp":1710375461894},"reference-count":4,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T00:00:00Z","timestamp":1696809600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T00:00:00Z","timestamp":1696809600000},"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":["Indian J Pediatr"],"published-print":{"date-parts":[[2024,4]]},"DOI":"10.1007\/s12098-023-04878-1","type":"journal-article","created":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T09:27:24Z","timestamp":1696843644000},"page":"414-414","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Spinal Muscular Atrophy with Predominant Lower Extremity (SMA-LED) with Intellectual Disability and Dysmorphism"],"prefix":"10.1007","volume":"91","author":[{"given":"Arvinder","family":"Wander","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ankit Kumar","family":"Meena","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pawan Kumar","family":"Ghanghoriya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prashant","family":"Jauhari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Biswaroop","family":"Chakrabarty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheffali","family":"Gulati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,10,9]]},"reference":[{"key":"4878_CR1","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1038\/ng.2613","volume":"45","author":"K Poirier","year":"2013","unstructured":"Poirier K, Lebrun N, Broix L, et al. Mutations in TUBG1, DYNC1H1, KIF5C, and KIF2A cause malformations of cortical development and microcephaly. Nat Genet. 2013;45:639\u201347.","journal-title":"Nat Genet."},{"key":"4878_CR2","doi-asserted-by":"publisher","first-page":"2049","DOI":"10.1002\/ajmg.a.61729","volume":"182","author":"S Amabile","year":"2020","unstructured":"Amabile S, Jeffries L, McGrath JM, et al. DYNC1H1-related disorders: a description of four new unrelated patients and a comprehensive review of previously reported variants. Am J Med Genet A. 2020;182:2049\u201357.","journal-title":"Am J Med Genet A."},{"key":"4878_CR3","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1212\/WNL.0000000000001269","volume":"84","author":"M Scoto","year":"2015","unstructured":"Scoto M, Rossor AM, Harms MB, et al. Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy. Neurology. 2015;84:668\u201379.","journal-title":"Neurology."},{"key":"4878_CR4","doi-asserted-by":"publisher","first-page":"1003","DOI":"10.1038\/s10038-020-0803-1","volume":"65","author":"L-L Becker","year":"2020","unstructured":"Becker L-L, Dafsari HS, Schallner J, et al. The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. J Hum Genet. 2020;65:1003\u201317.","journal-title":"J Hum Genet."}],"container-title":["Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-023-04878-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12098-023-04878-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-023-04878-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T09:39:47Z","timestamp":1710322787000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12098-023-04878-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,9]]},"references-count":4,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,4]]}},"alternative-id":["4878"],"URL":"https:\/\/doi.org\/10.1007\/s12098-023-04878-1","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"value":"0019-5456","type":"print"},{"value":"0973-7693","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,9]]},"assertion":[{"value":"27 August 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 September 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 October 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"None.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}