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Novel mutation in the MED23 gene for intellectual disability: A case report and literature review
MED23 deficiency causes the autosomal recessive Intellectual Disability (ID). Here we report an Iranian case with nonsyndromic ID presenting with developmental delay, microcephaly, hypotonia, severe ID, speech delay, and spasticity, who was homozygous for the novel MED23 c.670C>G variant. These r...
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| Publié dans: | Clin Case Rep |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
John Wiley and Sons Inc.
2019
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6389469/ https://ncbi.nlm.nih.gov/pubmed/30847200 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1942 |
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