A CLINICAL CASE OF OSTEOGENESIS IMPERFECT TYPE III, DETERMINED BY COL1A1 (P.GLY845ARG) GENE MUTATION IN A NEWBORN GIRL

• Main Authors: І. Ластівка (Author), В. Анцупова (Author), А. Бабінцева (Author), О. Юрків (Author), Л. Брішевац (Author), І. Малєєва (Author)
• Format: Book
• Published: Bukovynian State Medical University, 2022-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Osteogenesis imperfecta (OI) is a disease that is characterized by hereditary connective tissue dysplasia and is clinically manifested as excessive bone fragility and limb deformity. The overall incidence of OI is 1:10,000-20,000 live births. The main autosomal dominant inheritance path, autosomal r...