{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T17:21:05Z","timestamp":1790356865654,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,5,4]],"date-time":"2017-05-04T00:00:00Z","timestamp":1493856000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81471432"],"award-info":[{"award-number":["81471432"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:title>Key Clinical Message<\/jats:title>\n                  <jats:p>\n                    We report a compound heterozygous mutation (c.135delC; c.423+2dupT) of\n                    <jats:italic>MLC1<\/jats:italic>\n                    gene in a Chinese patient underlying infantile macrocephaly and neurological deterioration in early childhood. Brain MRI revealed diffusion abnormality in swollen white matter and a subcortical cyst. The cDNA sequencing analysis for the c.423+2dupT variant revealed skipping of exon 5.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.986","type":"journal-article","created":{"date-parts":[[2017,5,4]],"date-time":"2017-05-04T04:40:49Z","timestamp":1493872849000},"page":"961-967","source":"Crossref","is-referenced-by-count":3,"title":["A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China"],"prefix":"10.1002","volume":"5","author":[{"given":"Cong\u2010Ling","family":"Dai","sequence":"first","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering Central South University Hunan 410008 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen\u2010Bin","family":"He","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering Central South University Hunan 410008 China"},{"name":"Reproductive and 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