A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report
A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report
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London: BioMed Central Ltd
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English
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London: BioMed Central Ltd
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Background Pathogenic variants in KDM5C are a cause of X-linked intellectual disability in males. Other features in males include short stature, dysmorphic features, seizures and spasticity. In some instances, female relatives were noted to have learning difficulties and mild intellectual disabilities, but full phenotypic descriptions were often in...
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A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report
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TN_cdi_doaj_primary_oai_doaj_org_article_373a2e3506914968af5df3d35a2b1f86
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_373a2e3506914968af5df3d35a2b1f86
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ISSN
1471-2377
E-ISSN
1471-2377
DOI
10.1186/s12883-021-02380-9
