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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Mar 10;37(3):324-328. doi: 10.3760/cma.j.issn.1003-9406.2020.03.017.

[Clinical practice guidelines for Noonan syndrome].

[Article in Chinese]

Author information

1
Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530000, China. yiping.shen@childrens.harvard.edu.

Abstract

Noonan syndrome is a common genetic disease characterized by peculiar face, short stature, congenital heart disease and thoracic deformity. The pathogenesis of Noonan syndrome is mainly related to abnormal Ras-MAPK signal pathway which involves more than 16 genes including (PTPN11, SOS1, RAF1)] and KRAS. At present, there is a lack of experience in the diagnosis and treatment of Noonan syndrome in China. This guideline has summarized the clinical manifestation, pathogenesis, diagnostic criteria and treatment for Noonan syndrome, with an aim to improve the diagnostic level and clinical management of patients with this syndrome.

[Indexed for MEDLINE]

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