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September 21, 2025Baikal Medical JournalOpen Access

Molecular Genetic Factors in the Development of Connective Tissue Dysplasia: Collagenopathies

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Authors

ETElena A. TkachukISIgor Zh. Seminsky

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Overview

Analysis reveals molecular genetic causes of collagenopathies, indicating the importance of clinical diagnostics.

Key Points

  • Molecular genetic factors play a crucial role in the development of collagenopathies, impacting diagnosis and treatment.
  • The analysis of 28 collagen types shows diverse clinical manifestations of connective tissue dysplasia.
  • Diagnosis of hereditary connective tissue disorders often relies on expensive DNA diagnostics for accuracy.
  • Systematic understanding of collagenopathies is vital for effective treatment and improving patient quality of life.

Cite This Study

Tkachuk et al. (2025) studied this question.

synapsesocial.com/papers/68d46ac231b076d99fa683e6https://doi.org/10.57256/2949-0715-2025-4-3-46-62
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