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Chediak‐Higashi syndrome with parkinsonism
Movement Disorders, 2003AbstractChediak‐Higashi syndrome (CHS), typically presents with partial albinism and severe hematological abnormalities. About 10% of the patients have a mild adult form associated with various neurological manifestations. We describe the case of a 24‐year‐old woman with parkinsonism that responded well to antiparkinsonian drugs.
Silveira-Moriyama, L. +4 more
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2007
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder that affects multiple systems of the body. Mutations have been found in the CHS1 gene. This disorder characterized by hypopigmentation of the skin and hair; prolonged bleeding time; immunodeficiency; recurrent infections; neurologic abnormalites. Abnormally large granules are seen in
KILIÇ GÜLTEKİN, SARA ŞEBNEM +1 more
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Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder that affects multiple systems of the body. Mutations have been found in the CHS1 gene. This disorder characterized by hypopigmentation of the skin and hair; prolonged bleeding time; immunodeficiency; recurrent infections; neurologic abnormalites. Abnormally large granules are seen in
KILIÇ GÜLTEKİN, SARA ŞEBNEM +1 more
openaire +1 more source
Multiscale and integrative single-cell Hi-C analysis with Higashi
Nature Biotechnology, 2021Ruochi Zhang, Tianming Zhou, Jian
exaly
Voprosy gematologii/onkologii i immunopatologii v pediatrii, 2016
Yu.A. Rodina +4 more
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Yu.A. Rodina +4 more
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