{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T02:17:22Z","timestamp":1791944242553,"version":"4.3.4"},"reference-count":11,"publisher":"International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IRDR"],"published-print":{"date-parts":[[2017]]},"DOI":"10.5582\/irdr.2016.01084","type":"journal-article","created":{"date-parts":[[2017,1,23]],"date-time":"2017-01-23T17:20:12Z","timestamp":1485192012000},"page":"76-79","source":"Crossref","is-referenced-by-count":23,"title":["Griscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature"],"prefix":"10.5582","volume":"6","author":[{"given":"Priyanka","family":"Minocha","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Sawai Man Singh Medical College and Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richa","family":"Choudhary","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Sawai Man Singh Medical College and Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anika","family":"Agrawal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Sawai Man Singh Medical College and Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sadasivan","family":"Sitaraman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Sawai Man Singh Medical College and Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3542","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Singh A, Garg A, Kapoor S, Khurana N, Entesarian M, Tesi B. An Indian boy with griscelli syndrome type 2: Case report and review of literature. Indian J Dermatol. 2014; 59:394-397.","DOI":"10.4103\/0019-5154.135494"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Mahalingashetti PB, Krishnappa MH, Kalyan PS, Subramanian RA, Padhy S. Griscelli sndrome: Hemophagocytic lymphohistiocytosis with silvery hair. J Lab Physicians. 2012; 4:129-130.","DOI":"10.4103\/0974-2727.105597"},{"key":"3","unstructured":"3. Rajyalakshmi R, Chakrapani RN. Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy. Indian J Pathol Microbiol. 2016; 59:113-116."},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M. A syndrome associating partial albinism and immunodeficiency. Am J Med. 1978; 65: 691-702.","DOI":"10.1016\/0002-9343(78)90858-6"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Dotta L, Parolini S, Prandini A, Tabellini G, Antolini M, Kingsmore SF, Badolato R. Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism. Orphanet J Rare Dis. 2013; 8:168.","DOI":"10.1186\/1750-1172-8-168"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. M\u00e9nasch\u00e9 G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet. 2000; 25:173-176.","DOI":"10.1038\/76024"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Pastural E, Ersoy F, Yalman N, Wulffraat N, Grillo E, Ozkinay F, Tezcan I, Gedik\u00f6glu G, Philippe N, Fischer A, de Saint Basile G. Two genes are responsible for Griscelli syndrome at the same 15q21 locus. Genomics. 2000; 63:299-306.","DOI":"10.1006\/geno.1999.6081"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Valente NY, Machado MC, Boggio P, Alves AC, Bergonse FN, Casella E, Vasconcelos DM, Grumach AS, de Oliveira ZN. Polarized light microscopy of hair shafts aids in the differential diagnosis of Ch\u00e9diak-Higashi and Griscelli-Prunieras syndromes. Clinics (Sao Paulo). 2006; 61:327-332.","DOI":"10.1590\/S1807-59322006000400009"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Khemka P, Kundu R, Niyogi P, Tudu J. A case of silvery hair syndrome: Griscelli syndrome. Indian Journal of Paediatric Dermatology. 2015; 16:72-74.","DOI":"10.4103\/2319-7250.152126"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Malhotra AK, Bhaskar G, Nanda M, Kabra M, Singh MK, Ramam M. Griscelli syndrome. J Am Acad Dermatol. 2006; 55:337-340.","DOI":"10.1016\/j.jaad.2005.11.1056"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Cesaro S, Locatelli F, Lanino E, Porta F, Di Maio L, Messina C, Prete A, Ripaldi M, Maximova N, Giorgiani G, Rondelli R, Aric\u00f2 M, Fagioli F. Hematopoietic stem cell transplantation for hemophagocytic lymphohistiocytosis: A retrospective analysis of data from the Italian Association of Pediatric Hematology Oncology (AIEOP). Haematologica. 2008; 93:1694-1701.","DOI":"10.3324\/haematol.13142"}],"container-title":["Intractable &amp; Rare Diseases Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/irdr\/6\/1\/6_2016.01084\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,25]],"date-time":"2017-06-25T04:54:02Z","timestamp":1498366442000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/irdr\/6\/1\/6_2016.01084\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017]]}},"URL":"https:\/\/doi.org\/10.5582\/irdr.2016.01084","relation":{},"ISSN":["2186-361X","2186-3644"],"issn-type":[{"value":"2186-361X","type":"electronic"},{"value":"2186-3644","type":"print"}],"subject":[],"published":{"date-parts":[[2017]]}}}