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

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 fro...

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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7678048/
https://ncbi.nlm.nih.gov/pubmed/33218365
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-020-00821-x
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