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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Detalles Bibliográficos
Autores principales: Lim, Pei Jin, Marcionelli, Giulio, Srikanthan, Pakeerathan, Ndarugendamwo, Timothée, Pinner, Jason, Rohrbach, Marianne, Giunta, Cecilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10248412/
https://www.ncbi.nlm.nih.gov/pubmed/37305034
http://dx.doi.org/10.3389/fendo.2023.1195704

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