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...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2023-05-01
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Series: | Biomedicines |
Subjects: | |
Online Access: | https://www.mdpi.com/2227-9059/11/6/1565 |