PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Korean Journal of Pediatrics10.3345/kjp.2014.57.2.91201457291Griscelli syndrome type 2: a novel mutation inRAB27Agene with different clinical features in 2 siblings: a diagnostic conundrumKirtisudha Mishra, Shilpy Singla, Suvasini Sharma, Renu Saxena, Vineeta Vijay Batrahttp://kjp.or.kr/upload/pdf/kjped-57-91.pdf
World Journal of Pediatrics10.1007/s12519-017-0037-22017134392-394Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A genePatra Yeetong, Kanya Suphapeetiporn, Vorasuk Shotelersukhttp://link.springer.com/article/10.1007/s12519-017-0037-2/fulltext.html, http://link.springer.com/content/pdf/10.1007/s12519-017-0037-2.pdf, http://link.springer.com/content/pdf/10.1007/s12519-017-0037-2.pdf
Journal of Allergy and Clinical Immunology10.1016/j.jaci.2012.12.92320131312AB73Novel RAB27A Mutation Distinguishes Hypopigmentation From Cytotoxic Dysfunction in Griscelli Syndrome Type 2Sanny K. Chan, Pinaki Banerjee, Lenora Mendoza Noroski, Linda Monaco-Shawver, Javier Chinen, I. Celine Hanson, Jordan Orangehttps://api.elsevier.com/content/article/PII:S0091674912029247?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0091674912029247?httpAccept=text/plain
Pediatric Blood & Cancer10.1002/pbc.2287820115671136-1139A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndromeZuhre Kaya, Stephan Ehl, Meryem Albayrak, Andrea Maul-Pavicic, Klaus Schwarz, Ulker Kocak, Mehmet Ali Ergun, Turkiz Gurselhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpbc.22878, https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpbc.22878, http://onlinelibrary.wiley.com/wol1/doi/10.1002/pbc.22878/fullpdf
Journal of Allergy and Clinical Immunology10.1016/s0091-6749(02)81687-620021091S186-S186Functional rescue “in vitro” of cytotoxic activity by Rab27a gene reposition in griscelli syndrome-type 2Joao Bizario, Fabiola Castro, Jerome Feldmann, Gael Menasche, Erasmo Casella, Eugenia Carnide, Cristina Jacob, Antonio Carlos, Pastorino Lilian Cristofani, Genieve Saint-Basillehttps://api.elsevier.com/content/article/PII:S0091674902816876?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0091674902816876?httpAccept=text/plain
Clinical Imaging10.1016/j.clinimag.2012.05.0072013372398-402Currarino syndrome: variable imaging features in three siblings with HLXB9 gene mutationAh Yeong Kim, So-Young Yoo, Ji Hye Kim, Hong Eo, Tae Yeon Jeonhttps://api.elsevier.com/content/article/PII:S0899707112001738?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0899707112001738?httpAccept=text/plain
Journal of Clinical Immunology10.1007/s10875-008-9192-52008284384-389Analysis of RAB27A Gene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion HotspotSetareh Mamishi, Mohammad Hossein Modarressi, Babak Pourakbari, Banafshe Tamizifar, Fatemeh Mahjoub, Alireza Fahimzad, Soheila Alyasin, Mohamad Hassan Bemanian, Amir Ali Hamidiyeh, Mohammad Reza Fazlollahi, Mahmoud Reza Ashrafi, Anna Isaeian, Ghamartaj Khotaei, Mehdi Yeganeh, Nima Parvanehhttp://link.springer.com/content/pdf/10.1007/s10875-008-9192-5.pdf, http://link.springer.com/article/10.1007/s10875-008-9192-5/fulltext.html, http://link.springer.com/content/pdf/10.1007/s10875-008-9192-5
Nephrology10.1111/nep.1215620131812838-842Clinical features and mutation ofNPHP5in two Chinese siblings with Senior-Løken syndromeHuajuan Tong, Zhihui Yue, Liangzhong Sun, Huiqin Chen, Weiguang Wang, Haiyan Wanghttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fnep.12156, http://onlinelibrary.wiley.com/wol1/doi/10.1111/nep.12156/fullpdf
Molecular Genetics and Metabolism10.1016/j.ymgme.2008.02.0092008942248-254A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndromeWendy Westbroek, Maya Tuchman, Bradford Tinloy, Olivier De Wever, Thierry Vilboux, Jens M. Hertz, Henrik Hasle, Carsten Heilmann, Amanda Helip-Wooley, Robert Kleta, William A. Gahlhttps://api.elsevier.com/content/article/PII:S1096719208000553?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1096719208000553?httpAccept=text/plain
Journal of the American Academy of Dermatology10.1016/j.jaad.2007.05.0022008585S115-S116A further Turkish case of Griscelli syndrome with new RAB27A mutationHuseyin Onay, Can Balkan, Ozgur Cogulu, Yesim Aydinok, Deniz Yılmaz Karapinar, Ferda Ozkinayhttps://api.elsevier.com/content/article/PII:S019096220700792X?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S019096220700792X?httpAccept=text/plain