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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Xehetasun bibliografikoak
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2014
Gaiak:
Article
Sarrera elektronikoa: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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