Clinical phenotype and genetic mutation of one case with head tremor and cerebellar atrophy
Clinical phenotype and genetic mutation of one case with head tremor and cerebellar atrophy
About this item
Full title
Author / Creator
Kun-ming XIE , Wei-hong, GU , HAO, Ying , Yuan-yuan, CHEN , ZHANG, Jin and ZHANG, Xin
Publisher
Tianjin Shi: Tianjin Huanhu Hospital
Journal title
Language
English
Formats
Publication information
Publisher
Tianjin Shi: Tianjin Huanhu Hospital
Subjects
More information
Scope and Contents
Contents
Objective To make the diagnosis for a patient presented with head tremor and cerebellar atrophy by integrating clinical features and accessory examination with genetic testing and to explore the interpretation of genetic testing results. Methods A 30-year-old male patient's medical information, clinical pheontype, family history and accessory exami...
Alternative Titles
Full title
Clinical phenotype and genetic mutation of one case with head tremor and cerebellar atrophy
Authors, Artists and Contributors
Author / Creator
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_ede397c2672b4d31939a5b46e3a497ea
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ede397c2672b4d31939a5b46e3a497ea
Other Identifiers
ISSN
1672-6731
DOI
10.3969/j.issn.1672-6731.2017.07.007
