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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Détails bibliographiques
Auteurs principaux: Shehata, Laila, Simeonov, Dimitre R., Raams, Anja, Wolfe, Lynne, Vanderver, Adeline, Li, Xueli, Huang, Yan, Garner, Shannon, Boerkoel, Cornelius F., Thurm, Audrey, Herman, Gail E., Tifft, Cynthia J., He, Miao, Jaspers, Nicolaas G.J., Gahl, William A.
Format: Artigo
Langue:Inglês
Publié: 2014
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Article
Accès en ligne: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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