PTPN11 Mutations in LEOPARD Syndrome: Report of Four Cases in Taiwan
LEOPARD syndrome (LS) is a rare, autosomal dominant disorder. The typical clinical presentation includes multiple lentigines and cardiac defects. Mutation analysis of the PTPN11 gene is feasible. We report four cases of LS, which were confirmed by molecular genetic study. Methods: The clinical featu...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2009-10-01
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| Series: | Journal of the Formosan Medical Association |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0929664609604083 |