Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

BACKGROUND: Mutations in LYST, a gene encoding a putative lysosomal trafficking protein, cause Chédiak-Higashi syndrome (CHS), an autosomal recessive disorder typically characterized by infantile-onset hemophagocytic syndrome and immunodeficiency, and oculocutaneous albinism. A small number of repor...

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Detalles Bibliográficos
Autores principales: Weisfeld-Adams, James D, Mehta, Lakshmi, Rucker, Janet C, Dembitzer, Francine R, Szporn, Arnold, Lublin, Fred D, Introne, Wendy J, Bhambhani, Vikas, Chicka, Michael C, Cho, Catherine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3610301/
https://www.ncbi.nlm.nih.gov/pubmed/23521865
http://dx.doi.org/10.1186/1750-1172-8-46

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