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Article

[Mutations of the ELANE gene cause severe congenital neutropenia with periodontal disease: a case report].

Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology - 1 Aug 2020

Chen Yang, Wang Yan, Zhang Qiong, Zhang Yue-Ming, Zou Jing

Abstract excerpt

Severe congenital neutropenia is a rare disorder characterized by a consistently low absolute neutrophil count and periodontal disease. This report describes the case of an ELANE mutationin a patient with gingival bleeding and tooth mobility. Oral examination showed active periodontal infection of the primary dentition accompanied by alveolar bone loss in the posterior region. The patient was diagnosed with...

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Identifiers

PMID: 32865368
DOI: 10.7518/hxkq.2020.04.018
PMCID: PMC7426692

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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[Mutations of the ELANE gene cause severe congenital neutropenia with periodontal disease: a case report].PMID 32865368Read ↗

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Clinical characteristics of severe congenital neutropenia caused by novel ELANE gene mutations.Semantic proximity Read ↗

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Mutations in the ELANE gene are associated with development of periodontitis in patients with severe congenital neutropenia.Semantic proximity Read ↗

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Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia.Semantic proximity Read ↗

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