The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy
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DOI: 10.3390/biomedicines11061565
Abstract: 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… read more here.
Keywords: first large; presenting sensory; deletion; patient presenting ... See more keywords