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Article

Phenotypes of a toddler with hereditary sensory and autonomic neuropathy type IV: comparing with normal: A case report.

Medicine - 19 Jan 2024

Xu Qinghua, Wang Yanchun, Zhou Yuantao, Zhang Lu, Xiang Xiaoyi, Xie Yucheng, Lu Jiantian, Li Lei, Zhu Ying, Zhang Zhao, Zhang Tiesong, Li Li

Abstract excerpt

RATIONALE: Hereditary sensory and autonomic neuropathy type IV (HSAN IV) may be misdiagnosed because of low awareness among clinical professionals and overlap with other subtypes of congenital insensitivity to pain (CIP). PATIENT: The patient was a 1-year-and-5-months-old boy whose main symptoms were delayed psychomotor development and recurrent fever. Whole-exome sequencing (WES) revealed a compound heterozygous...

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Identifiers

PMID: 38241559
DOI: 10.1097/MD.0000000000036955
PMCID: PMC10798782

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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