Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant

Osteogenesis imperfecta (OI) is a syndromic disorder of bone fragility with high variation in its clinical presentation. Equally variable is molecular aetiology; recessive forms are caused by approximately 20 different genes, many of which are directly implicated in collagen type I biosynthesis. Bia...

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Detalles Bibliográficos
Autores principales: Zhytnik, Lidiia, Duy, Binh Ho, Eekhoff, Marelise, Wisse, Lisanne, Pals, Gerard, Reimann, Ene, Kõks, Sulev, Märtson, Aare, Maugeri, Alessandra, Maasalu, Katre, Micha, Dimitra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8950175/
https://www.ncbi.nlm.nih.gov/pubmed/35327962
http://dx.doi.org/10.3390/genes13030407

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