Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome

Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome

Noonan syndrome (NS) is inherited as an autosomal dominant disorder with dysmorphic facies, short stature, and cardiac defects, which can be caused by missense mutations in the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene, which encodes src homology region 2 domain containing tyros...

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Bibliographic Details
Main Authors: Mona L. Essawi, Manal F. Ismail, Hanan H. Afifi, Maha M. Kobesiy, Ahmed El Kotoury, Maged M. Barakat
Format: Article
Language:English
Published: Elsevier 2013-11-01
Series:Journal of the Formosan Medical Association
Subjects:
Egyptian patients
mutational analysis
Noonan syndrome
PTPN11
SHP-2
Online Access:http://www.sciencedirect.com/science/article/pii/S0929664612003312

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