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Article

[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Sept 2017

Zhou J, He J, Kou L P, Feng H C, Deng Y H, Zhang Z B, Zhou L, Wang J M, Jiang Y W, Wu Y

Abstract excerpt

Objective: To explore the phenotypic and genotypic characteristics in Chinese children with classic pantothenate kinase-associated neurodegeneration (PKAN). Method: The clinical, radiographic and genetic data of all PKAN patients diagnosed at pediatric department of Peking University First Hospital from November 2006 to December 2016 were retrospectively collected and analyzed. Result: Twenty patients with...

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Identifiers

PMID: 28881514
DOI: 10.3760/cma.j.issn.0578-1310.2017.09.011

Genes

PANK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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