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7. Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome. Jin Y; Zhang L; Wang S; Chen F; Gu Y; Hong E; Yu Y; Ni X; Guo Y; Shi T; Xu Z Sci Rep; 2017 Feb; 7():41308. PubMed ID: 28145517 [TBL] [Abstract][Full Text] [Related]
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13. Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease. Weisfeld-Adams JD; Mehta L; Rucker JC; Dembitzer FR; Szporn A; Lublin FD; Introne WJ; Bhambhani V; Chicka MC; Cho C Orphanet J Rare Dis; 2013 Mar; 8():46. PubMed ID: 23521865 [TBL] [Abstract][Full Text] [Related]
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