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PTPN11 Mutations in LEOPARD Syndrome: Report of Four Cases in Taiwan

✍ Scribed by I-Shou Lin; Jieh-Neng Wang; Sheau-Chiou Chao; Jing-Ming Wu; Shio-Jean Lin


Book ID
117630851
Publisher
Chinese Electronic Periodical Services
Year
2009
Tongue
English
Weight
241 KB
Volume
108
Category
Article
ISSN
0929-6646

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A Novel PTPN11 mutation in LEOPARD syndr
✍ E. Conti; T. Dottorini; A. Sarkozy; G. E. Tiller; G. Esposito; A. Pizzuti; B. Da πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 157 KB πŸ‘ 1 views

PTPN11 gene mutations are common to both patients with Noonan (NS) and LEOPARD syndrome (LS). So far only two recurrent mutations have been identified in LS patients by different research groups, i.e., Tyr279Cys and Thr468Met. In this work we describe the third PTPN11 mutation that has been found in