A novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: A case report

A novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: A case report

Background: Bruck syndrome (BS) is an extremely rare autosomal-recessive connective tissue disorder mainly characterized by bone fragility, congenital joint contracture, and spinal deformity. It is also considered as a rare form of osteogenesis imperfecta (OI) due to features of osteopenia and fragi...

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Những tác giả chính: Liyuan Shang, Weizhe Shi, Yibo Xu, Tianying Nong, Xia Li, Zhaohui Li, Yanhan Liu, Jingchun Li, Ya-Ping Tang, Mingwei Zhu, Hongwen Xu
Định dạng: Bài viết
Ngôn ngữ:English
Được phát hành: Elsevier 2024-04-01
Loạt:Heliyon
Những chủ đề:
Bruck syndrome
Osteogenesis imperfecta
Whole-exome sequencing
FKBP10
Case report
Truy cập trực tuyến:http://www.sciencedirect.com/science/article/pii/S240584402404711X

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http://www.sciencedirect.com/science/article/pii/S240584402404711X

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