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.
Bmc Medical Genomics
Zlotina, Anna A; Melnik, Olesia O; Fomicheva, Yulia Y; Skitchenko, Rostislav R; Sergushichev, Alexey A; Shagimardanova, Elena E; Gusev, Oleg O; Gazizova, Guzel G; Loevets, Tatiana T; Vershinina, Tatiana T; Kozyrev, Ivan I; Gordeev, Mikhail M; Vasichkina, Elena E; Pervunina, Tatiana T; Kostareva, Anna A
Publication Date: 2020-11-20
Variant appearance in text: PNPLA3: S321L; rs372552045