Leukoencephalopathia, demyelinating peripheral neuropathy and dural ectasia explained by a not formerly described de novo mutation in the SAMD9L gene, ends 27 years of investigations – a case report

BACKGROUND: Missense mutations in SAMD9L gene is associated with ataxia-pancytopenia syndrome (ATXPC), OMIM#159550. Common clinical features in these patients include neurological and hematological symptoms. The phenotype and age of onset is variable. CASE PRESENTATION: In this case report whole exo...

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Detalles Bibliográficos
Autores principales: Thunström, Sofia, Axelsson, Markus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499956/
https://www.ncbi.nlm.nih.gov/pubmed/31053103
http://dx.doi.org/10.1186/s12883-019-1319-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499956/
https://www.ncbi.nlm.nih.gov/pubmed/31053103
http://dx.doi.org/10.1186/s12883-019-1319-1

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