BARTH SYNDROME IN PRACTICE OF CARDIOLOGY

by O. V. Melnik, T. S. Loevets, T. L. Vershinina, A. Ya. Gudkova, Yu. V. Fomicheva, A. A. Kostareva, T. M. Pervunina, E. S. Vasichkina
Published 2018-04-01

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report

by Anna Zlotina, Olesia Melnik, Yulia Fomicheva, Rostislav Skitchenko, Alexey Sergushichev, Elena Shagimardanova, Oleg Gusev, Guzel Gazizova, Tatiana Loevets, Tatiana Vershinina, Ivan Kozyrev, Mikhail Gordeev, Elena Vasichkina, Tatiana Pervunina, Anna Kostareva
Published 2020-11-01