Chediak-Higashi Syndrome with early Developmental Delay resulting from Paternal Heterodisomy of Chromosome 1

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by variable oculocutaneous albinism, immunodeficiency, mild bleeding diathesis and an accelerated lymphoproliferative state. Abnormal lysosome-related organelle membrane function leads to the accumulation of large int...

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Hauptverfasser: Manoli, Irini, Golas, Gretchen, Westbroek, Wendy, Vilboux, Thierry, Markello, Thomas C., Introne, Wendy, Maynard, Dawn, Pederson, Ben, Tsilou, Ekaterini, Jordan, Michael B., Hart, P. Suzanne, White, James G., Gahl, William A., Huizing, Marjan
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2010
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2947940/
https://ncbi.nlm.nih.gov/pubmed/20503323
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33389
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