The neuropsychological phenotype of Chediak-Higashi disease

BACKGROUND/OBJECTIVES: Chediak-Higashi Disease (CHD) is a rare autosomal disorder, purported to have cognitive and neurological impairments. Prior descriptions of cognitive impairment, however, are solely based on subjective, unstructured observations rather than on formal neuropsychological measure...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Shirazi, Talia N., Snow, Joseph, Ham, Lillian, Raglan, Greta B., Wiggs, Edythe A., Summers, Angela C., Toro, Camilo, Introne, Wendy J.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6503440/
https://ncbi.nlm.nih.gov/pubmed/31060595
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1049-x
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