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Article

A novel ITGA3 homozygous splice mutation in an ILNEB syndrome child with slow progression.

Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2021

Liu Yaqing, Yue Zhihui, Wang Haiyan, Li Min, Wu Xiaohong, Lin Hongrong, Han Wei, Lan Shuling, Sun Liangzhong

Abstract excerpt

BACKGROUND AND AIMS: ILNEB (interstitial lung disease, nephrotic syndrome, epidermolysis bullosa) syndrome is caused by ITGA3 mutations. Demises usually happened at infancy. This study reports a complete ILNEB syndrome child with slow disease progression. MATERIALS AND METHODS: Clinical data and related specimens were collected. Genomic DNA was extracted for genetic sequencing. Integrin α3 expression was detected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 34751145
DOI: 10.1016/j.cca.2021.10.027

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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