These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
24. A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome. Kaya Z; Ehl S; Albayrak M; Maul-Pavicic A; Schwarz K; Kocak U; Ergun MA; Gursel T Pediatr Blood Cancer; 2011 Jul; 56(7):1136-9. PubMed ID: 21488161 [TBL] [Abstract][Full Text] [Related]
25. Congenital generalized hypomelanosis and immunodeficiency in a black child. Maari CH; Eichenfield LF Pediatr Dermatol; 2007; 24(2):182-5. PubMed ID: 17461820 [No Abstract] [Full Text] [Related]
26. A new method for rapid detection of the mutant allele for Chediak-Higashi syndrome in Japanese black cattle. Abdeen A; Sonoda H; Kobayashi I; Kitahara G; Ikeda M J Vet Med Sci; 2013; 75(9):1237-9. PubMed ID: 23615171 [TBL] [Abstract][Full Text] [Related]
28. [Identification of novel variants in a Chinese patient with Chediak-Higashi syndrome]. Wang C; Li Q; Zhao X; Zhao G; Kong X Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Nov; 39(11):1257-1261. PubMed ID: 36317214 [TBL] [Abstract][Full Text] [Related]
29. Chédiak-Higashi syndrome: report of a case and review of the Japanese literature. Fukai K; Ishii M; Kadoya A; Chanoki M; Hamada T J Dermatol; 1993 Apr; 20(4):231-7. PubMed ID: 8315113 [TBL] [Abstract][Full Text] [Related]
31. Chediak-Higashi syndrome: novel mutation of the CHS1/LYST gene in 3 Omani patients. Al-Tamemi S; Al-Zadjali S; Al-Ghafri F; Dennison D J Pediatr Hematol Oncol; 2014 May; 36(4):e248-50. PubMed ID: 24072239 [TBL] [Abstract][Full Text] [Related]
32. Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome. Ridaura-Sanz C; Durán-McKinster C; Ruiz-Maldonado R Pediatr Dermatol; 2018 Nov; 35(6):780-783. PubMed ID: 30338556 [TBL] [Abstract][Full Text] [Related]
34. Spectrum of Morimoto M; Nicoli ER; Kuptanon C; Roney JC; Serra-Vinardell J; Sharma P; Adams DR; Gallin JI; Holland SM; Rosenzweig SD; Barbot J; Ciccone C; Huizing M; Toro C; Gahl WA; Introne WJ; Malicdan MCV J Med Genet; 2024 Feb; 61(3):212-223. PubMed ID: 37788905 [TBL] [Abstract][Full Text] [Related]
35. Large lysosomes in Chédiak-Higashi syndrome. Zhou W; Lane JC; Chang A Kidney Int; 2024 Aug; 106(2):320. PubMed ID: 39032971 [No Abstract] [Full Text] [Related]
36. Dystrophinopathy in a boy with Chediak-Higashi syndrome. von Moers A; van Landeghem FK; Cohn RD; Baumgarten E; Bürger J; Stoltenburg-Didinger G Neuromuscul Disord; 1998 Oct; 8(7):489-94. PubMed ID: 9829279 [TBL] [Abstract][Full Text] [Related]
37. Assisted reproduction mediated resurrection of a feline model for Chediak-Higashi syndrome caused by a large duplication in LYST. Buckley RM; Grahn RA; Gandolfi B; Herrick JR; Kittleson MD; Bateman HL; Newsom J; Swanson WF; Prieur DJ; Lyons LA Sci Rep; 2020 Jan; 10(1):64. PubMed ID: 31919397 [TBL] [Abstract][Full Text] [Related]
38. Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder. Ward DM; Shiflett SL; Kaplan J Curr Mol Med; 2002 Aug; 2(5):469-77. PubMed ID: 12125812 [TBL] [Abstract][Full Text] [Related]