Mutational Analysis of PTPN11 Gene in Taiwanese Children with Noonan Syndrome

Mutational Analysis of PTPN11 Gene in Taiwanese Children with Noonan Syndrome

Noonan syndrome (NS) is an autosomal dominant disorder presenting with characteristic facies, short stature, skeletal anomalies, and congenital heart defects. Mutations in protein-tyrosine phosphatase, nonreceptor-type 11 (PTPN11), encoding SHP-2, account for 33-50% of NS. This study screened for mu...

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Bibliographic Details
Main Authors: Chia-Sui Hung, Ju-Li Lin, Yann-Jinn Lee, Shuan-Pei Lin, Mei-Chyn Chao, Fu-Sung Lo
Format: Article
Language:English
Published: Elsevier 2007-01-01
Series:Journal of the Formosan Medical Association
Subjects:
mutation analysis
Noonan syndrome
PTPN11
SHP-2
Online Access:http://www.sciencedirect.com/science/article/pii/S0929664609602357

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