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Article

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

Human mutation - 1 Aug 2010

Miyake Noriko, Kosho Tomoki, Mizumoto Shuji, Furuichi Tatsuya, Hatamochi Atsushi, Nagashima Yoji, Arai Eiichi, Takahashi Kazuo, Kawamura Rie, Wakui Keiko, Takahashi Jun, Kato Hiroyuki, Yasui Hiroshi, Ishida Tadao, Ohashi Hirofumi, Nishimura Gen, Shiina Masaaki, Saitsu Hirotomo, Tsurusaki Yoshinori, Doi Hiroshi, Fukushima Yoshimitsu, Ikegawa Shiro, Yamada Shuhei, Sugahara Kazuyuki, Matsumoto Naomichi

Abstract excerpt

Ehlers-Danlos syndrome (EDS) is a heterogeneous connective tissue disorder involving skin and joint laxity and tissue fragility. A new type of EDS, similar to kyphoscoliosis type but without lysyl hydroxylase deficiency, has been investigated. We have identified a homozygous CHST14 (carbohydrate...

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Source

Identifiers

PMID: 20533528
DOI: 10.1002/humu.21300

Genes

CHST14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20533528-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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