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Article

Long-term follow-up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant.

American journal of medical genetics. Part A - 1 May 2022

Uludağ Alkaya Dilek, Uyguner Zehra Oya, Güneş Nilay, Tüysüz Beyhan

Abstract excerpt

Osteogenesis imperfecta (OI) is a heterogeneous group of disorders with bone fragility. In 2019, homozygous pathogenic variants in MESD were described for the first time in five patients with severe form of OI. To date, 12 patients have been reported. The aim of this study is to report long-term follow-up findings of a girl with MESD variant. She had triangular face, sparse hair, wide fontanelle, blue sclera,...

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Identifiers

PMID: 35092157
DOI: 10.1002/ajmg.a.62664

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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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