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Article

Two novel mutations in the ANTXR2 gene in a Chinese patient suffering from hyaline fibromatosis syndrome: A case report.

Molecular medicine reports - 1 Oct 2018

Gao Ying, Bai Jinli, Wang Jiancai, Liu Xiaoyan

Abstract excerpt

Hyaline fibromatosis syndrome (HFS; MIM 228600) is a rare autosomal recessive disorder characterized by the abnormal growth of hyalinized fibrous tissue at subcutaneous regions on the scalp, ears and neck. The disease is caused by either a homozygous or compound heterozygous mutation of the anthrax toxin receptor 2 (ANTXR2) gene. The present study describes a patient with HFS confirmed by clinical examination as...

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Identifiers

PMID: 30152846
DOI: 10.3892/mmr.2018.9421

Genes

ANTXR2

Variants

Provenance

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