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https://doi.org/10.14300/mnnc.2016.11078

Hererditary connective tissue disorders: unresolved questions and controversial issues

[Reviews]
Alexey Klemenov;

Hereditary connective tissue disorders are a genetically and clinically heterogeneous group of congenital mesenchymal abnormalities. The review represents the current concepts of hereditary connective tissue disorders, reflects the debating aspects of diagnosis and interpretation of clinical significance of some monogenic syndromes (Marfan syndrome, Ehlers-Danlos syndrome, MASS-phenotype, primary mitral valve prolapse, joint hypermobility syndrome) and unclassifiable dysplastic phenotypes (marfanoid appearance, benign joint hypermobility).

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Keywords: hereditary connective tissue disorders, Marfan syndrome, Ehlers-Danlos syndrome, mitral valve prolapse, joint hypermobility