A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracar...
A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities
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Author / Creator
Bukaeva, Anna , Myasnikov, Roman , Kulikova, Olga , Meshkov, Alexey , Kiseleva, Anna , Petukhova, Anna , Zotova, Evgenia , Sparber, Peter , Ershova, Alexandra , Sotnikova, Evgeniia , Kudryavtseva, Maria , Zharikova, Anastasia , Koretskiy, Sergey , Mershina, Elena , Ramensky, Vasily , Zaicenoka, Marija , Vyatkin, Yuri , Muraveva, Alisa , Abisheva, Alexandra , Nikityuk, Tatiana , Sinitsyn, Valentin , Divashuk, Mikhail , Dadali, Elena , Pokrovskaya, Maria and Drapkina, Oxana
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
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More information
Scope and Contents
Contents
A genetic diagnosis of primary cardiomyopathies can be a long-unmet need in patients with complex phenotypes. We investigated a three-generation family with cardiomyopathy and various extracardiac abnormalities that had long sought a precise diagnosis. The 41-year-old proband had hypertrophic cardiomyopathy (HCM), left ventricular noncompaction, my...
Alternative Titles
Full title
A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities
Authors, Artists and Contributors
Author / Creator
Myasnikov, Roman
Kulikova, Olga
Meshkov, Alexey
Kiseleva, Anna
Petukhova, Anna
Zotova, Evgenia
Sparber, Peter
Ershova, Alexandra
Sotnikova, Evgeniia
Kudryavtseva, Maria
Zharikova, Anastasia
Koretskiy, Sergey
Mershina, Elena
Ramensky, Vasily
Zaicenoka, Marija
Vyatkin, Yuri
Muraveva, Alisa
Abisheva, Alexandra
Nikityuk, Tatiana
Sinitsyn, Valentin
Divashuk, Mikhail
Dadali, Elena
Pokrovskaya, Maria
Drapkina, Oxana
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_3085115011
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3085115011
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms25147556
