Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome

Background. Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, immunodeficiency, coagulopathy and late-onset, progressive neurological dysfunction. It also has an “accelerated phase” characterized by hemophagocytic lymphohistiocytosis (HL...

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Detalles Bibliográficos
Autores principales: Morrone, Kerry, Wang, Yanhua, Huizing, Marjan, Sutton, Elie, White, James G., Gahl, William A., Moody, Karen
Formato: Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846365/
https://www.ncbi.nlm.nih.gov/pubmed/20368792
http://dx.doi.org/10.1155/2010/967535

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