Genetic Conditions > Chediak-Higashi syndrome >

References

These sources were used to develop the Genetics Home Reference condition summary on Chediak-Higashi syndrome.

Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking. Thromb Haemost. 2001 Jul;86(1):233-45. Review. PubMed citation
Introne W, Boissy RE, Gahl WA. Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Mol Genet Metab. 1999 Oct;68(2):283-303. Review. PubMed citation
Kaplan J, De Domenico I, Ward DM. Chediak-Higashi syndrome. Curr Opin Hematol. 2008 Jan;15(1):22-9. Review. PubMed citation
Karim MA, Suzuki K, Fukai K, Oh J, Nagle DL, Moore KJ, Barbosa E, Falik-Borenstein T, Filipovich A, Ishida Y, Kivrikko S, Klein C, Kreuz F, Levin A, Miyajima H, Regueiro J, Russo C, Uyama E, Vierimaa O, Spritz RA. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet. 2002 Feb 15;108(1):16-22. PubMed citation
Möttönen M, Lanning M, Baumann P, Saarinen-Pihkala UM. Chediak-Higashi syndrome: four cases from Northern Finland. Acta Paediatr. 2003 Sep;92(9):1047-51. PubMed citation
Shiflett SL, Kaplan J, Ward DM. Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related organelles. Pigment Cell Res. 2002 Aug;15(4):251-7. Review. PubMed citation
Ward DM, Shiflett SL, Kaplan J. Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder. Curr Mol Med. 2002 Aug;2(5):469-77. Review. PubMed citation
Westbroek W, Adams D, Huizing M, Koshoffer A, Dorward H, Tinloy B, Parkes J, Helip-Wooley A, Kleta R, Tsilou E, Duvernay P, Digre KB, Creel DJ, White JG, Boissy RE, Gahl WA. Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype. J Invest Dermatol. 2007 Nov;127(11):2674-7. Epub 2007 May 31. PubMed citation


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