Last Posted: Mar 03, 2023
- Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis.
Nishida Yoshiaki, et al. Neurology. Genetics 2019 0 (3) e332
- Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations.
Niemelä Valter, et al. Neurology. Genetics 2020 0 (3) e426
- Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.
Schiessl-Weyer Jasmin, et al. PloS one 2015 0 (4) e0125861
From NCATS Genetic and Rare Diseases Information Center
- Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia.
Shimo H, et al. Neuroscience research 2010 12
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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- Page last updated:Jun 02, 2023
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