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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| Автори: | , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Elsevier
2007-01-01
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| Серія: | Journal of the Formosan Medical Association |
| Предмети: | |
| Онлайн доступ: | http://www.sciencedirect.com/science/article/pii/S0929664609602357 |
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