Clinical and Experimental Pediatrics

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Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum

Kirtisudha Mishra, Shilpy Singla, Suvasini Sharma, Renu Saxena, Vineeta Vijay Batra

Clin Exp Pediatr. 2014;57(2):91-95. Published online February 24, 2014
DOI: https://doi.org/10.3345/kjp.2014.57.2.91

Griscelli syndrome type 2: a novel mutation inRAB27Agene with different clinical features in 2 siblings: a diagnostic conundrum

Kirtisudha Mishra, Shilpy Singla, Suvasini Sharma, Renu Saxena, Vineeta Vijay Batra

Korean Journal of Pediatrics. 2014;57(2):91

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Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene

Patra Yeetong, Kanya Suphapeetiporn, Vorasuk Shotelersuk

World Journal of Pediatrics. 2017;13(4):392-394

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Novel RAB27A Mutation Distinguishes Hypopigmentation From Cytotoxic Dysfunction in Griscelli Syndrome Type 2

Sanny K. Chan, Pinaki Banerjee, Lenora Mendoza Noroski, Linda Monaco-Shawver, Javier Chinen, I. Celine Hanson, Jordan Orange

Journal of Allergy and Clinical Immunology. 2013;131(2):AB73

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A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome

Zuhre Kaya, Stephan Ehl, Meryem Albayrak, Andrea Maul-Pavicic, Klaus Schwarz, Ulker Kocak, Mehmet Ali Ergun, Turkiz Gursel

Pediatric Blood & Cancer. 2011;56(7):1136-1139

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Functional rescue “in vitro” of cytotoxic activity by Rab27a gene reposition in griscelli syndrome-type 2

Joao Bizario, Fabiola Castro, Jerome Feldmann, Gael Menasche, Erasmo Casella, Eugenia Carnide, Cristina Jacob, Antonio Carlos, Pastorino Lilian Cristofani, Genieve Saint-Basille

Journal of Allergy and Clinical Immunology. 2002;109(1):S186-S186

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Currarino syndrome: variable imaging features in three siblings with HLXB9 gene mutation

Ah Yeong Kim, So-Young Yoo, Ji Hye Kim, Hong Eo, Tae Yeon Jeon

Clinical Imaging. 2013;37(2):398-402

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Analysis of RAB27A Gene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion Hotspot

Setareh 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 Parvaneh

Journal of Clinical Immunology. 2008;28(4):384-389

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A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome

Wendy Westbroek, Maya Tuchman, Bradford Tinloy, Olivier De Wever, Thierry Vilboux, Jens M. Hertz, Henrik Hasle, Carsten Heilmann, Amanda Helip-Wooley, Robert Kleta, William A. Gahl

Molecular Genetics and Metabolism. 2008;94(2):248-254

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Clinical features and mutation ofNPHP5in two Chinese siblings with Senior-Løken syndrome

Huajuan Tong, Zhihui Yue, Liangzhong Sun, Huiqin Chen, Weiguang Wang, Haiyan Wang

Nephrology. 2013;18(12):838-842

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A further Turkish case of Griscelli syndrome with new RAB27A mutation

Huseyin Onay, Can Balkan, Ozgur Cogulu, Yesim Aydinok, Deniz Yılmaz Karapinar, Ferda Ozkinay

Journal of the American Academy of Dermatology. 2008;58(5):S115-S116

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