Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic <i>CBL</i> Variant-Reference-Cited by-同舟云学术

Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic <i>CBL</i> Variant

Published:2023 Issue:4 Volume:66 Page:463-466
ISSN:1346-8049
Container-title:Yonago Acta Medica
language:en
Short-container-title:Yonago Acta Med.

Author:

Kawaguchi Tatsuya¹,Okanishi Tohru¹,Okazaki Tetsuya²,Aoki Chisako²,Kasagi Noriko³,Adachi Kaori²,Yoshida Yuichi⁴,Miyake Noriko⁵,Matsumoto Naomichi⁶,Maegaki Yoshihiro¹

Affiliation:

1. Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago 683-8504, Japan

2. Division of Clinical Genetics, Tottori University Hospital, Yonago 683-8504, Japan

3. Department of Fundamental Nursing, School of Health Science, Faculty of Medicine Tottori University, Yonago 683-8504, Japan

4. Division of Dermatology, Department of Sensory and Motor Organs, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan

5. Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo 162-8655, Japan

6. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan

Publisher

Tottori University Faculty of Medicine

Subject

General Medicine

Link

https://www.jstage.jst.go.jp/article/yam/66/4/66_2023.11.005/_pdf

Reference13 articles.

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2. 2. Carter MC, Metcalfe DD, Komarow HD. Mastocytosis. Immunol Allergy Clin North Am. 2014;34:181-96. PMID:24262698, DOI:10.1016/j.iac.2013.09.001

3. 3. Pullarkat ST, Wu W, Pullarkat V. Systemic Mastocytosis: Advances in Diagnosis and Current Management. Cancer Treat Res. 2021;181:167-78. PMID:34626361, DOI:10.1007/978-3-030-78311-2_10

4. 4. Villani A, Greer MLC, Kalish JM, Nakagawara A, Nathanson KL, Pajtler KW, et al. Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk. Clin Cancer Res. 2017;23:e83-90. PMID:28620009, DOI:10.1158/1078-0432.CCR-17-0631

5. 5. Kratz CP, Franke L, Peters H, Kohlschmidt N, Kazmierczak B, Finckh U, et al. Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes. Br J Cancer. 2015;112:1392-7. PMID:25742478, DOI:10.1038/bjc.2015.75

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