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Article

Hyaline fibromatosis syndrome with a novel 4.41-kb deletion in ANTXR2 gene: A case report and literature review.

Molecular genetics & genomic medicine - 1 Aug 2022

Zhu Yunqian, Du Xiaonan, Sun Li, Wang Huijun, Wang Dahui, Wu Bingbing

Abstract excerpt

BACKGROUND: Hyaline fibromatosis syndrome is a rare autosomal recessive disorder with ANTXR2 mutations characterised by the accumulation of hyaline substances in tissues. We present a case with the severe form-infantile systemic hyalinosis (ISH)-with long survival and review the literature. METHODS AND RESULTS: Trio-exome sequencing revealed compound heterozygous mutations, including a novel 4.41 kb deletion on...

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PMID: 35726349
DOI: 10.1002/mgg3.1993
PMCID: PMC9356561

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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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