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Article

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

Brain : a journal of neurology - 1 Oct 2009

Rotthier Annelies, Baets Jonathan, De Vriendt Els, Jacobs An, Auer-Grumbach Michaela, Lévy Nicolas, Bonello-Palot Nathalie, Kilic Sara Sebnem, Weis Joachim, Nascimento Andrés, Swinkels Marielle, Kruyt Moyo C, Jordanova Albena, De Jonghe Peter, Timmerman Vincent

Abstract excerpt

Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory and autonomic neurons. So far, disease-associated mutations have been identified in seve...

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Source

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Identifiers

PMID: 19651702
DOI: 10.1093/brain/awp198
PMCID: PMC2759337

Genes

NTRK1
SPTLC1
WNK1
CCT5
NGFR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19651702-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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