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The First Large Deletion of <i>ATL3</i> Identified in a Patient Presenting with a Sensory Polyneuropathy

Hereditary sensory neuropathies (HSN) are a heterogenous group of sensory neuropathies. Mutations in <i>ATL3</i> 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 neu...

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Principais autores: Ioanna Pyromali, Laurence Richard, Paco Derouault, Jean-Michel Vallat, Karima Ghorab, Corinne Magdelaine, Franck Sturtz, Frédéric Favreau, Anne-Sophie Lia
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2023-05-01
Serier:Biomedicines
Fag:
hereditary sensory neuropathy
structural variation
<i>ATL3</i>
NGS
CovCopCan
Online adgang:https://www.mdpi.com/2227-9059/11/6/1565
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