Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation
Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation
About this item
Full title
Author / Creator
Publisher
United States: John Wiley and Sons Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley and Sons Inc
Subjects
More information
Scope and Contents
Contents
Background
Patients with intellectual disability (ID) typically exhibit significant defects in both intelligence and adaptive behavior. Aberration of several genes involved in proper progression of mitosis has been reported to underlie ID. Here, we report a new patient with a novel mutation of CHAMP1.
Methods
Whole exome sequencing (WES) a...
Alternative Titles
Full title
Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5606869
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5606869
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.303
