Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy

Background: Heterozygous gain-of-function variants in SAMD9L are associated with ataxia-pancytopenia syndrome (ATXPC) and monosomy 7 myelodysplasia and leukemia syndrome-1 (M7MLS1). Association with peripheral neuropathy has rarely been described. Methods: Whole-exome sequencing (WES) from DNA extra...

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Detalles Bibliográficos
Autores principales: Eggermann, K., Meyer, R., Begemann, M., Dey, D., Bültmann, E., Kurth, I., Korenke, G. C., Knopp, C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778166/
https://www.ncbi.nlm.nih.gov/pubmed/36553623
http://dx.doi.org/10.3390/genes13122356

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778166/
https://www.ncbi.nlm.nih.gov/pubmed/36553623
http://dx.doi.org/10.3390/genes13122356

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