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Article

[A novel compound heterozygous mutation in ABCA3 gene in a child with diffuse parenchymal lung disease].

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

Bao Y M, Liu X L, Liu X L, Chen J H, Zheng Y J

Abstract excerpt

Objective: To summarize the clinical characteristics of the diffuse parenchymal lung diseases in a child caused by a novel compound heterozygous ABCA3 mutation and explore the association between the phenotype and ABCA3 mutation. Method: The clinical material of a patient diagnosed with diffuse parenchymal lung disease with ABCA3 mutation in December 2016 in Shenzhen Children's Hospital was analyzed. The...

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Source

Identifiers

PMID: 29141314
DOI: 10.3760/cma.j.issn.0578-1310.2017.11.009

Genes

ABCA3

Variants

Provenance

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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