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Article

A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.

European journal of medical genetics - 1 Aug 2021

Aiba Kaori, Nakamura Yuji, Sugimoto Mari, Yatsuka Yukiko, Okazaki Yasushi, Murayama Kei, Ohtake Akira, Yokochi Kenji, Saitoh Shinji

Abstract excerpt

Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is caused by a mutation in ATRX, which is essential for proper chromatin remodeling. ATRX dysfunction leads to dysregulation of many genes due to abnormal chromatin remodeling, and causes a multisystem disorder in patients with ATR-X. Because mitochondrial disorders also show multisystem involvement, whether mitochondrial function is affected in...

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Identifiers

PMID: 34051360
DOI: 10.1016/j.ejmg.2021.104251

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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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