A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions-Reference-Cited by-同舟云学术

A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions

Published:2013-11-14 Issue:1 Volume:59 Page:57-59
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Carapito Raphael,Paul Nicodème,Untrau Meiggie,Ott Louise,Corradini Nadège,Poignant Sylvaine,Geffroy Loïc,Caldagues Emmanuelle,Heymann Marie-Françoise,Cassagnau Elisabeth,Isidor Bertrand,Bahram Seiamak

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg2013118.pdf

Reference16 articles.

1. Mendez, H. M. & Opitz, J. M. Noonan syndrome: a review. Am. J. Med. Genet. 21, 493–506 (1985).

2. Noonan, J. A. Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. Am. J. Dis. Child. 116, 373–380 (1968).

3. Roberts, A. E., Allanson, J. E., Tartaglia, M. & Gelb, B. D. Noonan syndrome. Lancet 381, 333–342 (2013).

4. Tartaglia, M., Zampino, G. & Gelb, B. D. Noonan syndrome: clinical aspects and molecular pathogenesis. Mol. Syndromol. 1, 2–26 (2010).

5. Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G., Brunner, H. G., Kremer, H. et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat. Genet. 29, 465–468 (2001).

Cited by 9 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. Giant Cell Lesions of the Jaws Involving RASopathy Syndromes;Acta Stomatologica Croatica;2022-03-15

2. Imatinib, a New Adjuvant Medical Treatment for Multifocal Villonodular Synovitis Associated to Noonan Syndrome: A Case Report and Literature Review;Frontiers in Medicine;2022-01-17

3. Multiple versus solitary giant cell lesions of the jaw: Similar or distinct entities?;Bone;2021-08

4. Phenotype–genotype analysis of 242 individuals with RASopathies : 18‐year experience of a tertiary center in Brazil;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2020-10-31

5. Noonan syndrome with multiple Giant cell lesions, management and treatment with surgery and interferon alpha‐2a therapy: Case report;Birth Defects Research;2020-02-17