Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a heritable and chronically debilitating skeletal dysplasia. Patients with OI typically present with reduced bone mass, tendency for recurrent fractures, short stature and bowing deformities of the long bones. Mutations causative of OI have been identified in over 20...

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Hlavní autoři:	Pei Jin Lim, Giulio Marcionelli, Pakeerathan Srikanthan, Timothée Ndarugendamwo, Jason Pinner, Marianne Rohrbach, Cecilia Giunta
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2023-05-01
Edice:	Frontiers in Endocrinology
Témata:	osteogenesis imperfecta (OI) extracellular matrix (ECM) fatty acid metabolism X-linked site-2 protease MBTPS2
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fendo.2023.1195704/full
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