Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy-Reference-Cited by-同舟云学术

Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy

Published:2023-11-16 Issue:6 Volume:16 Page:1325-1331
ISSN:1937-5387
Container-title:Journal of Cardiovascular Translational Research
language:en
Short-container-title:J. of Cardiovasc. Trans. Res.

Author:

Poleg Tomer,Eskin-Schwartz Marina,Proskorovski-Ohayon Regina,Aminov Ilana,Dolgin Vadim,Agam Nadav,Jean Matan,Safran Amit,Freund Ofek,Levitas Aviva,Konstantino Yuval,Birk Ohad S.^ORCID,Westreich Roi,Haim Moti

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Cardiology and Cardiovascular Medicine,Pharmaceutical Science,Genetics,Molecular Medicine

Link

https://link.springer.com/content/pdf/10.1007/s12265-023-10461-y.pdf

Reference17 articles.

1. Ciarambino T, Menna G, Sansone G, Giordano M. Cardiomyopathies: an overview. Int J Mol Sci. 2021. https://doi.org/10.3390/ijms22147722. (MDPI)

2. Maron BJ, Maron MS. Hypertrophic cardiomyopathy. Lancet. 2013. https://doi.org/10.1016/S0140-6736(12)60397-3. (Elsevier B.V)

3. Weintraub RG, Semsarian C, Macdonald P. Dilated cardiomyopathy. Lancet. 2017. https://doi.org/10.1016/S0140-6736(16)31713-5. (Lancet Publishing Group)

4. Wilkinson JD, Landy DC, Colan SD, Towbin JA, Sleeper LA, Orav EJ, Lipshultz SE. The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years. Heart Fail Clin. 2010. https://doi.org/10.1016/j.hfc.2010.05.002.

5. Harmon WG, Sleeper LA, Cuniberti L, Messere J, Colan SD, Orav EJ, Lipshultz SE. treating children with idiopathic dilated cardiomyopathy (from the Pediatric Cardiomyopathy Registry). Am J Cardiol. 2009;104(2):281–6. https://doi.org/10.1016/j.amjcard.2009.03.033.

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities;International Journal of Molecular Sciences;2024-07-10

2. New Insights into the Genetics of Cardiomyopathies;Journal of Cardiovascular Translational Research;2023-11-28