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

Genes - 24 Feb 2022

Zhytnik Lidiia, Duy Binh Ho, Eekhoff Marelise, Wisse Lisanne, Pals Gerard, Reimann Ene, Kõks Sulev, Märtson Aare, Maugeri Alessandra, Maasalu Katre, Micha Dimitra

Abstract excerpt

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. Biallelic variants in prolyl 3-hydroxylase 1 (P3H1) are known to cause severe OI by affecting the competence of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35327962
DOI: 10.3390/genes13030407
PMCID: PMC8950175

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