Molecular and Genetic Basis of Hereditary Connective-Tissue Diseases Accompanied by Frequent Fractures

• Main Authors: G. T. Yakhyaeva (Author), L. S. Namazova-Baranova (Author), T. V. Margieva (Author), N. V. Zhurkova (Author), A. A. Pushkov (Author), K. V. Savostyanov (Author)
• Format: Book
• Published: "Paediatrician" Publishers LLC, 2016-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Frequent bone fractures in infancy require the elimination of a large number (> 100) of genetic disorders. The modern diagnostic method of hereditary diseases characterized by debilitating course is a new generation sequencing. The article presents the results of molecular-genetic study conducted...