Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlig...
Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
Ring chromosome 18 (r(18)) is a rare chromosomal abnormality characterized by the circular rearrangement of chromosome 18, which presents significant challenges in genotype-phenotype correlations due to variability in deletions across the 18p and 18q arms. We report the case of a pediatric patient with a
de novo
ring chromosome 18, diagnosed...
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Full title
Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications
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TN_cdi_doaj_primary_oai_doaj_org_article_e7908277ef604c4f86f327ffcdc1e7a4
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e7908277ef604c4f86f327ffcdc1e7a4
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ISSN
1755-8166
E-ISSN
1755-8166
DOI
10.1186/s13039-024-00700-5
