CLINICAL-GENETIC FEATURES OF THE KNOBLOCH SYNDROME IN THE RUSSIAN FAMILY

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Abstract


The article presents the clinical and genetic characteristics of a patient with Knobloch syndrome caused by the previously indescried combination of mutations in the compound heterozygous state c.4054_4055delCT / c.1469-2A>G in the gene COL18A1. The peculiarity of the presented case is the absence of symptoms of central nervous system damage, found in most patients with this syndrome.

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About the authors

Olga V. Khlebnikova

Research Centre for Medical Genetics

Email: khlebnikova@med-gen.ru
Moscow, 115478, Russian Federation
leading Researcher of the Research Centre for Medical Genetics, Moscow

E. L Dadali

Research Centre for Medical Genetics

Moscow, 115478, Russian Federation

L. A Bessonova

«Genomed», Centre for Medical Genetics

Moscow, 115478, Russian Federation

F. A Konovalov

Research Centre for Medical Genetics

Moscow, 115478, Russian Federation

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