KFU. Card publication. 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

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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

Form of presentation

Articles in international journals and collections

Year of publication

2020

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Authors, employees of KFU

Gusev Oleg Aleksandrovich, author

Shagimardanova Elena Ilyasovna, author

Bibliographic description in the original language

Zlotina A, Melnik O, Fomicheva Y, 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. - 2020. - Vol.13, Is.1. - Art. � 175.

Keywords

mutation, exome

The name of the journal

BMC Medical Genomics

URL

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85096328975&doi=10.1186%2fs12920-020-00821-x&partnerID=40&md5=7661b5d6c8126bc786a1f6d7c1274256

Please use this ID to quote from or refer to the card

https://repository.kpfu.ru/eng/?p_id=242916&p_lang=2

Full metadata record

Field DC	Value	Language
dc.contributor.author	Gusev Oleg Aleksandrovich	ru_RU
dc.contributor.author	Shagimardanova Elena Ilyasovna	ru_RU
dc.date.accessioned	2020-01-01T00:00:00Z	ru_RU
dc.date.available	2020-01-01T00:00:00Z	ru_RU
dc.date.issued	2020	ru_RU
dc.identifier.citation	Zlotina A, Melnik O, Fomicheva Y, 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. - 2020. - Vol.13, Is.1. - Art. � 175.	ru_RU
dc.identifier.uri	https://repository.kpfu.ru/eng/?p_id=242916&p_lang=2	ru_RU
dc.description.abstract	BMC Medical Genomics	ru_RU
dc.language.iso	ru	ru_RU
dc.subject	mutation	ru_RU
dc.subject	exome	ru_RU
dc.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	ru_RU
dc.type	Articles in international journals and collections	ru_RU