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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2007-01-01
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| Series: | Journal of the Formosan Medical Association |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0929664609602357 |