Nonrecurrent 17p duplications in two patients with developmental and neurological abnormalities
Nonrecurrent 17p duplications in two patients with developmental and neurological abnormalities
About this item
Full title
Author / Creator
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Variable copy number variations (CNVs) in the short arm of chromosome 17 are associated with many neurodevelopmental disorders, including Charcot–Marie–Tooth disease type 1A, Potocki–Lupski syndrome and Yuan–Harel–Lupski syndrome. Here we examined CNVs in two sporadic cases of developmental abnormalities, brain impairment and peripheral neuropathy....
Alternative Titles
Full title
Nonrecurrent 17p duplications in two patients with developmental and neurological abnormalities
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_00924334aa314e458d2b65f12d7176c9
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_00924334aa314e458d2b65f12d7176c9
Other Identifiers
ISSN
2054-345X
E-ISSN
2054-345X
DOI
10.1038/s41439-025-00310-6
