Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series
Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series
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Author / Creator
Kang, Li , Ma, Yixuan and Zhao, Peng
Publisher
Warsaw: De Gruyter
Journal title
Language
English
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Publisher
Warsaw: De Gruyter
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Scope and Contents
Contents
Cohen syndrome (OMIM No. # 216550) is a rare autosomal recessive disorder caused by homozygous mutation in the vacuolar protein sorting 13 homolog B (VPS13B) gene on chromosome 8q22.2. Clinical manifestations include hypermobile joints, microcephaly, intellectual disabilities, craniofacial and limb anomalies, and neutropenia. To date, more than 200...
Alternative Titles
Full title
Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series
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TN_cdi_doaj_primary_oai_doaj_org_article_9a6824c2db69492d9e9dd5dd8e24b551
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9a6824c2db69492d9e9dd5dd8e24b551
Other Identifiers
ISSN
2081-6936,2081-3856
E-ISSN
2081-6936
DOI
10.1515/tnsci-2022-0304
