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

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

Open source

DOI: 10.1186/s12920-020-00821-x
Published: 2020-11-20
Container: BMC Medical Genomics
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1186/s12920-020-00821-x,
  title = {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},
  author = {Anna Zlotina and Olesia Melnik and Yulia Fomicheva and Rostislav Skitchenko and Alexey Sergushichev and Elena Shagimardanova and Oleg Gusev and Guzel Gazizova and Tatiana Loevets and Tatiana Vershinina and Ivan Kozyrev and Mikhail Gordeev and Elena Vasichkina and Tatiana Pervunina and Anna Kostareva},
  year = {2020},
  journal = {BMC Medical Genomics},
  doi = {10.1186/s12920-020-00821-x},
  url = {https://doi.org/10.1186/s12920-020-00821-x}
}

RIS

TY  - JOUR
TI  - 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
AU  - Anna Zlotina
AU  - Olesia Melnik
AU  - Yulia Fomicheva
AU  - Rostislav Skitchenko
AU  - Alexey Sergushichev
AU  - Elena Shagimardanova
AU  - Oleg Gusev
AU  - Guzel Gazizova
AU  - Tatiana Loevets
AU  - Tatiana Vershinina
AU  - Ivan Kozyrev
AU  - Mikhail Gordeev
AU  - Elena Vasichkina
AU  - Tatiana Pervunina
AU  - Anna Kostareva
PY  - 2020
JO  - BMC Medical Genomics
DO  - 10.1186/s12920-020-00821-x
UR  - https://doi.org/10.1186/s12920-020-00821-x
ER  -

APA

Zlotina, A., Melnik, O., Fomicheva, Y., Skitchenko, R., Sergushichev, A., Shagimardanova, E., Gusev, O., Gazizova, G., Loevets, T., Vershinina, T., Kozyrev, I., Gordeev, M., Vasichkina, E., Pervunina, T., & Kostareva, A. (2020). 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. https://doi.org/10.1186/s12920-020-00821-x

Source records

crossref · retrieved 2026-11-10T14:34:29.307Z