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Article

Diversity in heritable disorders of connective tissue at a single center.

Connective tissue research - 1 Sept 2021

Hsu Rai-Hseng, Chien Yin-Hsiu, Hwu Wuh-Liang, Lee Ni-Chung

Abstract excerpt

BACKGROUND: Heritable disorders of connective tissue (HDCT) is a heterogeneous group of conditions caused by defects in genes responsible for extracellular matrix elements. Although next-generation sequencing (NGS) technology can be used to analyze many genes at a time, precisely diagnosing HDCT is still challenging because of the overlapping phenotypes and genotypes. METHODS: A 67-gene NGS targeted panel or...

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PMID: 32862725
DOI: 10.1080/03008207.2020.1816994

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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