A Case of Noonan Syndrome with the <i>SHOC2</i> Mutation Complicated by Dilation of a Single Left Coronary Artery-Reference-Cited by-同舟云学术

A Case of Noonan Syndrome with the SHOC2 Mutation Complicated by Dilation of a Single Left Coronary Artery

Published:2019-05-01 Issue:2 Volume:35 Page:127-131
ISSN:0911-1794
Container-title:Pediatric Cardiology and Cardiac Surgery
language:en
Short-container-title:Ped Cardiol Card Surg

Author:

Ishikawa Nobuyuki¹,Horigome Hitoshi¹,Murakami Takashi¹,Takahashi-Igari Miho¹,Nozaki Yoshihiro²,Lin Lisheng²,Shiono Junko²,Hiramatsu Yuji³,Yanagisawa Hiromi⁴

Affiliation:

1. Department of Child Health, Faculty of Medicine, University of Tsukuba

2. Department of Cardiovascular Surgery, Faculty of Medicine, University of Tsukuba

3. Department of Pediatric Cardiology, Ibaraki Children’s Hospital

4. Life Science Center for Survival Dynamics, Tsukuba Advanced Research Alliance, University of Tsukuba

Publisher

The Japanese Society of Pediatric Cardiology and Cardiac Surgery

Subject

Polymers and Plastics,General Environmental Science

Link

https://www.jstage.jst.go.jp/article/jspccs/35/2/35_2018-0056/_pdf

Reference20 articles.

1. 1) Roberts AE, Allanson JE, Tartaglia M, et al: Noonan syndrome. Lancet 2013; 381: 333–342

2. 2) Aoki Y, Niihori T, Inoue S, et al: Recent advances in RASopathies. J Hum Genet 2016; 61: 33–39

3. 3) Cordeddu V, Di Schiavi E, Pennacchio LA, et al: Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet 2009; 41: 1022–1026

4. 4) Baldassarre G, Mussa A, Banaudi E, et al: Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation. Am J Med Genet A 2014; 164A: 3120–3125

5. 5) Iwasaki Y, Horigome H, Takahashi Igari M, et al: Coronary artery dilation in LEOPARD syndrome. A child case and literature review. Congenit Heart Dis 2009; 4: 38–41