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Updated: Sep 16, 2025

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
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A Distinctive Skeletal Phenotype in an Adult With IFITM5 -Associated Osteogenesis Imperfecta due to p.Ser40Leu

Deepak Amalnath1, Shreya Rajagopal2, Koyyagura Aparna2

  • 1Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), Pondicherry, India.

American Journal of Medical Genetics. Part A
|July 7, 2025
PubMed

Keywords:
IFITM5c.119C>Tcalvarial doughnut lesionsosteogenesis imperfectap.Ser40Leu

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