Timothy syndrome‐like condition with syndactyly but without prolongation of the QT interval-Reference-Cited by-同舟云学术

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Timothy syndrome‐like condition with syndactyly but without prolongation of the QT interval

Published:2018-05-07 Issue:7 Volume:176 Page:1657-1661
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Kosaki Rika¹^ORCID,Ono Hiroshi²,Terashima Hiroshi³,Kosaki Kenjiro⁴

Affiliation:

1. Division of Medical Genetics, National Center for Child Health and DevelopmentTokyo Japan

2. Division of Cardiology, National Center for Child Health and DevelopmentTokyo Japan

3. Division of NeulorogyNational Center for Child Health and DevelopmentTokyo Japan

4. Center for Medical Genetics, Keio University School of MedicineTokyo Japan

Funder

National Center for Child Health and Development

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38833

Reference22 articles.

1. Sudden Cardiac Arrest during Anesthesia in a 30-Month-Old Boy with Syndactyly: A Case of Genetically Proven Timothy Syndrome

2. Novel Timothy syndrome mutation leading to increase in CACNA1C window current

3. Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1

4. Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between timothy syndrome types 1 and 2?

5. A rare association with suffered cardiac arrest, long QT interval, and syndactyly: Timothy syndrome (LQT-8)

Cited by 15 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. Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics;Expert Reviews in Molecular Medicine;2023

2. L-Type Ca2+ Channels and Cardiac Arrhythmias;Heart Rate and Rhythm;2023

3. CACNA1C-Related Channelopathies;Voltage-gated Ca2+ Channels: Pharmacology, Modulation and their Role in Human Disease;2023

4. Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability;Archives of Iranian Medicine;2022-12-01

5. Geno- and phenotypic characteristics and clinical outcomes of CACNA1C gene mutation associated Timothy syndrome, “cardiac only” Timothy syndrome and isolated long QT syndrome 8: A systematic review;Frontiers in Cardiovascular Medicine;2022-11-29

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