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ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination
Mutations in ERCC6 are associated with growth failure, intellectual disability, neurological dysfunction and deterioration, premature aging and photosensitivity. We describe siblings with biallelic ERCC6 mutations (NM_000124.2:c. [543+4delA];[2008C>T]) and brain hypomyelination, microcephaly, cog...
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| Hlavní autoři: | , , , , , , , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2014
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4205164/ https://ncbi.nlm.nih.gov/pubmed/25251875 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36709 |
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