A postzygoticNRASmutation in a patient with Schimmelpenning syndrome-Reference-Cited by-同舟云学术

A postzygoticNRASmutation in a patient with Schimmelpenning syndrome

Published:2015-04-25 Issue:9 Volume:167 Page:2223-2225
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kuroda Yukiko¹,Ohashi Ikuko¹,Enomoto Yumi¹,Naruto Takuya¹,Baba Naoko²,Tanaka Yukichi³,Aida Noriko⁴,Okamoto Nobuhiko⁵,Niihori Tetsuya⁶,Aoki Yoko⁶,Kurosawa Kenji¹

Affiliation:

1. Division of Medical Genetics; Kanagawa Children's Medical Center; Yokohama Japan

2. Division of Dermatology; Kanagawa Children's Medical Center; Yokohama Japan

3. Department of Pathology; Kanagawa Children's Medical Center; Yokohama Japan

4. Department of Radiology; Kanagawa Children's Medical Center; Yokohama Japan

5. Department of Medical Genetics; Osaka Medical Center and Research Institute for Maternal and Child Health; Izumi Japan

6. Department of Medical Genetics; Tohoku University School of Medicine; Sendai Japan

Funder

The Ministry of Health, Labor and Welfare of Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37135/fullpdf

Reference10 articles.

1. Germline mutations in HRAS proto-oncogene cause Costello syndrome;Aoki;Nat Genet,2005

2. NRAS mutation is the sole recurrent somatic mutation in large congenital melanocytic nevi;Charbel;J Invest Dermatol,2014

3. Review of neurological manifestations in 196 patients with sebaceous naevi;Davies;Australas J Dermatol,2002

4. Suppression of oncogenic NRAS by RNA interference induces apoptosis of human melanoma cells;Eskandarpour;Int J Cancer,2005

5. Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome;Groesser;Nat Genet,2012

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