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Article

Decreased telomere length in children with cartilage-hair hypoplasia.

Journal of medical genetics - 1 May 2017

Kostjukovits Svetlana, Degerman Sofie, Pekkinen Minna, Klemetti Paula, Landfors Mattias, Roos Göran, Taskinen Mervi, Mäkitie Outi

Abstract excerpt

BACKGROUND: Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia caused by RMRP (RNA component of mitochondrial RNA processing endoribonuclease) gene mutations. Manifestations include short stature, variable immunodeficiency, anaemia and increased risk of malignancies, all of which have been described also in telomere biology disorders. RMRP interacts with the telomerase RT (TERT) subunit,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27986801
DOI: 10.1136/jmedgenet-2016-104279

Genes

TERT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Decreased telomere length in children with cartilage-hair hypoplasia.PMID 27986801Read ↗

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