Клинико-генетические параллели классификации и диагностики синдрома Элерса-Данло
https://doi.org/10.25557/2073-7998.2021.06.14-26
Аннотация
Статья посвящена обсуждению подходов к классификации и обзору доступных литературных данных о клинической вариабельности и молекулярно-генетических основах патогенеза редкого наследственного заболевания - синдрома Элерса-Данло. Представленный обзор расширит представление о патогенезе и позволит оптимизировать диагностику данного синдрома, определить тактику лечения и медико-генетического консультирования отягощенных семей как клиническим генетикам, специалистам в области изучения орфанных заболеваний, так и врачам терапевтам, специалистам семейной медицины и общей врачебной практики.
Об авторах
Д. Д. Надыршина
Башкирский государственный университет
Россия
Россия
А. В. Тюрин
ФГБОУ ВО «Башкирский Государственный медицинский университет» МЗ РФ
Россия
Россия
Э. К. Хуснутдинова
Башкирский государственный университет; ФГБОУ ВО «Башкирский Государственный медицинский университет» МЗ РФ; ГБУЗ Республиканский Медико-генетический центр
Россия
Россия
Р. И. Хусаинова
ФГБОУ ВО «Башкирский Государственный медицинский университет» МЗ РФ; ГБУЗ Республиканский Медико-генетический центр
Россия
Россия
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Рецензия
Для цитирования:
Надыршина Д.Д., Тюрин А.В., Хуснутдинова Э.К., Хусаинова Р.И. Клинико-генетические параллели классификации и диагностики синдрома Элерса-Данло. Медицинская генетика. 2021;20(6):14-26. https://doi.org/10.25557/2073-7998.2021.06.14-26
For citation:
Nadyrshina D.D., Tyrin A.V., Khusnutdinova E.K., Khusainova R.I. Clinical and genetic parallels of the classification and diagnosis of Ehlers-Danlos syndrome. Medical Genetics. 2021;20(6):14-26. (In Russ.) https://doi.org/10.25557/2073-7998.2021.06.14-26
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