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Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.

Bone - 1 Feb 2023

Tüysüz Beyhan, Kasap Büşra, Sarıtaş Merve, Alkaya Dilek Uludağ, Bozlak Serdar, Kıykım Ayça, Durmaz Asude, Yıldırım Timur, Akpınar Evren, Apak Hilmi, Vural Mehmet

Abstract excerpt

BACKGROUND: Metaphyseal chondrodysplasias are a heterogeneous group of diseases characterized by short and bowed long bones and metaphyseal abnormality. The aim of this study is to investigate the genetic etiology and prognostic findings in patients with metaphyseal dysplasia. METHODS: Twenty-four Turkish patients were included in this study and 13 of them were followed for 2-21 years. COL10A1, RMRP sequencing...

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PMID: 36400164
DOI: 10.1016/j.bone.2022.116614

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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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