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Article

A severe pulmonary complication in a patient with COL4A1-related disorder: A case report.

European journal of medical genetics - 1 Mar 2017

Abe Yoshiichi, Matsuduka Atsuko, Okanari Kazuo, Miyahara Hiroaki, Kato Mitsuhiro, Miyatake Satoko, Saitsu Hirotomo, Matsumoto Naomichi, Tomoki Maeda, Ihara Kenji

Abstract excerpt

Patients with COL4A1 mutation-related disorders demonstrate a variety of disease phenotypes, which caused by small-vessel dysfunction in the brain, eyes, kidney, muscle, or heart. The involvement of organs mainly depends on the expression of the COL4A1 gene. Complication or dysfunction of the alveolar tissue has not been reported in the literature on COL4A1 mutation-related disorders. We herein report the case of...

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Identifiers

PMID: 28017902
DOI: 10.1016/j.ejmg.2016.12.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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