Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novelPTPN11mutation Gln510His-Reference-Cited by-同舟云学术

Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novelPTPN11mutation Gln510His

Published:2011-09-09 Issue:10 Volume:155 Page:2529-2533
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Wakabayashi Yasushi,Yamazaki Kyohei,Narumi Yoko,Fuseya Satoshi,Horigome Miki,Wakui Keiko,Fukushima Yoshimitsu,Matsubara Yoichi,Aoki Yoko,Kosho Tomoki

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Cardiomyopathy

2. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene;Digilio;Am J Hum Genet,2002

3. PTPN11 gene mutations: Linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype;Digilio;Eur J Pediatr,2006

4. ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities: A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices) developed in collaboration with the American Association for Thoracic Surgery and Society of Thoracic Surgeons;Epstein;J Am Coll Cardiol,2008

5. PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: What is the link?;Faienza;Pediatr Cardiol,2009

Cited by 7 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 novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects;European Journal of Medical Research;2022-12-10

2. LEOPARD syndrome;Kardiologiia;2020-05-03

3. Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations;Orphanet Journal of Rare Diseases;2019-07-05

4. How necessary is to analyze PTPN11 gene in fetuses with first trimester cystic hygroma and normal karyotype?;The Journal of Maternal-Fetal & Neonatal Medicine;2016-06-08

5. A novel heterozygousMAP2K1mutation in a patient with Noonan syndrome with multiple lentigines;American Journal of Medical Genetics Part A;2014-11-25