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Article

Impaired SERPINF1 Expression due to c.[-37C>A];[829_831del] Causes Osteogenesis Imperfecta VI.

American journal of medical genetics. Part A - 1 Apr 2026

Badiger Vaishnavi Ashok, Nampoothiri Sheela, Vangara Meher Mounika, Majethia Purvi, Girisha Katta M, Radhakrishnan Periyasamy, Shukla Anju

Abstract excerpt

Osteogenesis imperfecta type VI is a rare genetic disorder caused by biallelic disease-causing variants in SERPINF1. The phenotype is characterized by severe osteopenia, recurrent fractures, and moderate to severe skeletal deformities. We report an 11-year-old individual who presented with multiple fractures of the long bones of the upper and lower extremities, severe osteopenia, and skeletal deformities. Whole...

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Identifiers

PMID: 41362246
DOI: 10.1002/ajmga.70020

Genes

SERPINF1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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