The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy

Hereditary sensory neuropathies (HSN) are a heterogenous group of sensory neuropathies. Mutations in ATL3 have been described in patients presenting with hereditary sensory neuropathy IF (HSN1F), a subtype of HSN. Herein, by analyzing targeted-NGS data of a patient presenting with sensory neuropathy...

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Detalles Bibliográficos
Autores principales: Pyromali, Ioanna, Richard, Laurence, Derouault, Paco, Vallat, Jean-Michel, Ghorab, Karima, Magdelaine, Corinne, Sturtz, Franck, Favreau, Frédéric, Lia, Anne-Sophie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10295399/
https://www.ncbi.nlm.nih.gov/pubmed/37371660
http://dx.doi.org/10.3390/biomedicines11061565

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10295399/
https://www.ncbi.nlm.nih.gov/pubmed/37371660
http://dx.doi.org/10.3390/biomedicines11061565

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