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Article

Clinical and molecular characteristics of Thai patients with ELANE-related neutropaenia.

Journal of clinical pathology - 1 Feb 2022

Ittiwut Rungnapa, Sengpanich Kunlapat, Lauhasurayotin Supanun, Ittiwut Chupong, Shotelersuk Vorasuk, Sosothikul Darintr, Suphapeetiporn Kanya

Abstract excerpt

AIMS: Congenital neutropaenia is a rare inherited disorder that mainly affects neutrophils causing severe infection. Mutations in several genes have been implicated in the disease pathogenesis. The genetic defects may vary in different populations, influenced by ethnicity and geographical location. Here we describe the clinical and genotypic characteristics of seven unrelated Thai cases with congenital...

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Identifiers

PMID: 33318085
DOI: 10.1136/jclinpath-2020-207139

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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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Clinical and molecular characteristics of Thai patients with ELANE-related neutropaenia.PMID 33318085Read ↗

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