A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus-Reference-Cited by-同舟云学术

A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus

Published:2018-11-16 Issue:2 Volume:64 Page:177-181
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Nagatsuma Misako,Takasawa Kei^ORCID,Yamauchi Takeru,Nakagawa Ryuichi,Mizuno Tomoko,Tanaka Eriko,Yamamoto Kouhei,Uemura Noriko,Kashimada Kenichi^ORCID,Morio Tomohiro

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s10038-018-0539-3.pdf

Reference19 articles.

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2. Kuroda Y, Ohashi I, Enomoto Y, Naruto T, Baba N, Tanaka Y, et al. A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome. Am J Med Genet A. 2015;167A:2223–5.

3. Groesser L, Herschberger E, Ruetten A, Ruivenkamp C, Lopriore E, Zutt M, et al. Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. Nat Genet. 2012;44:783–7.

4. Hafner C, Groesser L. Mosaic RASopathies. Cell Cycle. 2013;12:43–50.

5. Whyte MP, Griffith M, Trani L, Mumm S, Gottesman GS, McAlister WH, et al. Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS. Bone. 2017;101:145–55.

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