Article
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 - 20 Nov 2020
Zlotina Anna, Melnik Olesia, Fomicheva Yulia, Skitchenko Rostislav, Sergushichev Alexey, Shagimardanova Elena, Gusev Oleg, Gazizova Guzel, Loevets Tatiana, Vershinina Tatiana, Kozyrev Ivan, Gordeev Mikhail, Vasichkina Elena, Pervunina Tatiana, Kostareva Anna
Abstract excerpt
BACKGROUND: Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a rare well-defined autosomal dominant disorder characterized by long thumbs with three phalanges combined with pre- and postaxial polydactyly/syndactyly of limbs. By now, the syndrome has been reported in several large families from different ethnic backgrounds, with a high degree of inter- and intrafamilial variability. The genome locus...
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