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Article

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.

Journal of medical genetics - 1 Jul 2014

Smith Amanda C, Mears Alan J, Bunker Ryan, Ahmed Afsana, MacKenzie Malcolm, Schwartzentruber Jeremy A, Beaulieu Chandree L, Ferretti Emanuela, Majewski Jacek, Bulman Dennis E, Celik Fatma Cakmak, Boycott Kym M, Graham Gail E

Abstract excerpt

BACKGROUND: Sedaghatian-type spondylometaphyseal dysplasia (SSMD) is a neonatal lethal form of spondylometaphyseal dysplasia characterised by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities. As part of the FORGE Canada Consortium we studied two unrelated families to identify the genetic aetiology of this rare...

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Identifiers

PMID: 24706940
DOI: 10.1136/jmedgenet-2013-102218

Genes

GPX4

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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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