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Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants.

Calcified tissue international - 1 Dec 2021

Yüksel Ülker Aylin, Uludağ Alkaya Dilek, Elkanova Leyla, Şeker Ali, Akpınar Evren, Akarsu Nurten Ayşe, Uyguner Zehra Oya, Tüysüz Beyhan

Abstract excerpt

Osteogenesis imperfecta type XI (OI-XI) and Bruck syndrome type I (BS1) are two rare disorders caused by biallelic variants in the FKBP10, characterized by early-onset bone fractures and progressive skeletal deformities. The patients with OI-XI, also co-segregated with autosomal-recessive epidermolysis bullosa simplex caused by KRT14 variant, have been reported. In this study, the follow-up clinical features of...

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PMID: 34173012
DOI: 10.1007/s00223-021-00879-4

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Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants.PMID 34173012Read ↗

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