{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T12:42:36Z","timestamp":1776861756946,"version":"3.51.2"},"reference-count":17,"publisher":"Korean Pediatric Society","issue":"2","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":["synapse.koreamed.org"],"crossmark-restriction":true},"short-container-title":["Korean J Pediatr"],"published-print":{"date-parts":[[2014]]},"DOI":"10.3345\/kjp.2014.57.2.91","type":"journal-article","created":{"date-parts":[[2014,3,6]],"date-time":"2014-03-06T06:29:27Z","timestamp":1394087367000},"page":"91","update-policy":"https:\/\/doi.org\/10.3345\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Griscelli syndrome type 2: a novel mutation in<i>RAB27A<\/i>gene with different clinical features in 2 siblings: a diagnostic conundrum"],"prefix":"10.3345","volume":"57","author":[{"given":"Kirtisudha","family":"Mishra","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Kalawati Saran Children's Hospital, Lady Hardinge Medical College, New Delhi, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shilpy","family":"Singla","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kalawati Saran Children's Hospital, Lady Hardinge Medical College, New Delhi, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suvasini","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kalawati Saran Children's Hospital, Lady Hardinge Medical College, New Delhi, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renu","family":"Saxena","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Sir Ganga Ram Hospital, New Delhi, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vineeta Vijay","family":"Batra","sequence":"additional","affiliation":[{"name":"Department of Pathology, G. B. Pant Hospital, New Delhi, India."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1897","reference":[{"key":"10.3345\/kjp.2014.57.2.91_ref1","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1590\/S0100-879X2008001000002","volume":"41","author":"Meschede","year":"2008","journal-title":"Braz J Med Biol Res"},{"key":"10.3345\/kjp.2014.57.2.91_ref2","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1086\/341606","volume":"71","author":"Anikster","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.3345\/kjp.2014.57.2.91_ref3","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1007\/BF01955897","volume":"152","author":"Hurvitz","year":"1993","journal-title":"Eur J Pediatr"},{"key":"10.3345\/kjp.2014.57.2.91_ref4","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1038\/76024","volume":"25","author":"M\u00e9nasch\u00e9","year":"2000","journal-title":"Nat Genet"},{"key":"10.3345\/kjp.2014.57.2.91_ref5","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1002\/ajmg.a.10836","volume":"116A","author":"Aksu","year":"2003","journal-title":"Am J Med Genet A"},{"key":"10.3345\/kjp.2014.57.2.91_ref6","first-page":"387","volume":"13","author":"Brismar","year":"1992","journal-title":"AJNR Am J Neuroradiol"},{"key":"10.3345\/kjp.2014.57.2.91_ref7","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1177\/0883073808315409","volume":"23","author":"Masri","year":"2008","journal-title":"J Child Neurol"},{"key":"10.3345\/kjp.2014.57.2.91_ref8","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.braindev.2006.09.007","volume":"29","author":"Rajadhyax","year":"2007","journal-title":"Brain Dev"},{"key":"10.3345\/kjp.2014.57.2.91_ref9","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/0002-9343(78)90858-6","volume":"65","author":"Griscelli","year":"1978","journal-title":"Am J Med"},{"key":"10.3345\/kjp.2014.57.2.91_ref10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0165-0173(98)00020-4","volume":"28","author":"Langford","year":"1998","journal-title":"Brain Res Brain Res Rev"},{"key":"10.3345\/kjp.2014.57.2.91_ref11","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1172\/JCI200318264","volume":"112","author":"M\u00e9nasch\u00e9","year":"2003","journal-title":"J Clin Invest"},{"key":"10.3345\/kjp.2014.57.2.91_ref12","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1006\/geno.1999.6081","volume":"63","author":"Pastural","year":"2000","journal-title":"Genomics"},{"key":"10.3345\/kjp.2014.57.2.91_ref13","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1002\/pbc.22357","volume":"54","author":"Meeths","year":"2010","journal-title":"Pediatr Blood Cancer"},{"key":"10.3345\/kjp.2014.57.2.91_ref14","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1182\/asheducation-2011.1.178","volume":"2011","author":"Weitzman","year":"2011","journal-title":"Hematology Am Soc Hematol Educ Program"},{"key":"10.3345\/kjp.2014.57.2.91_ref15","first-page":"944","volume":"41","author":"Sheela","year":"2004","journal-title":"Indian Pediatr"},{"key":"10.3345\/kjp.2014.57.2.91_ref16","first-page":"695","volume":"75","author":"Schwartz","year":"2007","journal-title":"Am Fam Physician"},{"key":"10.3345\/kjp.2014.57.2.91_ref17","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/s00431-006-0258-1","volume":"166","author":"Janka","year":"2007","journal-title":"Eur J Pediatr"}],"container-title":["Korean Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/kjp.or.kr\/upload\/pdf\/kjped-57-91.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,13]],"date-time":"2022-06-13T10:00:16Z","timestamp":1655114416000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.e-cep.org\/journal\/view.php?doi=10.3345\/kjp.2014.57.2.91"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014]]}},"URL":"https:\/\/doi.org\/10.3345\/kjp.2014.57.2.91","relation":{},"ISSN":["1738-1061","2092-7258"],"issn-type":[{"value":"1738-1061","type":"print"},{"value":"2092-7258","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014]]},"assertion":[{"value":"2012-10-19","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-03-11","name":"revised","label":"Revised","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-05-28","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2014-02-24","name":"published_online","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"Copyright \u00a9 2014 by The Korean Pediatric Society","name":"copyright","label":"Copyright","group":{"name":"Copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.","name":"license","label":"License","explanation":{"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"},"group":{"name":"Copyright_and_licensing","label":"Copyright and Licensing"}}]}}