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The role of HCFC1 in syndromic and non-syndromic intellectual disability.
Mutations in the HCFC1 gene are associated with cases of syndromic (cblX) and non-syndromic intellectual disability. Syndromic individuals present with severe neurological defects including intractable epilepsy, facial dysmorphia, and intellectual disability. Non-syndromic individuals have also been...
Sparad:
| I publikationen: | Med Res Arch |
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| Huvudupphovsmän: | , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
2020
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8218923/ https://ncbi.nlm.nih.gov/pubmed/34164576 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18103/mra.v8i6.2122 |
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