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Article

The first Japanese case of the arthrochalasia type of Ehlers-Danlos syndrome with COL1A2 gene mutation.

Gene - 15 Mar 2014

Hatamochi Atsushi, Hamada Takahiro, Yoshino Makoto, Hashimoto Takashi

Abstract excerpt

This is the first report for a Japanese case of arthrochalasia type of Ehlers-Danlos syndrome (EDS). A 46-year-old woman consulted us for joint hypermobility and skin hyperextensibility that had been present soon after birth. There was no family history of a similar disease. She was diagnosed as having bilateral congenital hip dislocation and bilateral habitual shoulder dislocation at her childhood. Her skin was...

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PMID: 24440294
DOI: 10.1016/j.gene.2014.01.033

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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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