Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in P3H1—further expansion of the phenotypic spectrum

Osteogenesis imperfecta (OI) is a heritable disorder of bone metabolism characterized by multiple fractures with minimal trauma. Autosomal recessive OI type VIII is associated with biallelic pathogenic variants in P3H1 and classically characterized by skeletal anomalies in addition to significant bo...

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Detalles Bibliográficos
Autores principales: Mikhail, Kristen A., VanSickle, Elizabeth, Rossetti, Linda Z.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2023
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10111797/
https://www.ncbi.nlm.nih.gov/pubmed/36963805
http://dx.doi.org/10.1101/mcs.a006260

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