A Novel PTPN11 mutation in LEOPARD syndr
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E. Conti; T. Dottorini; A. Sarkozy; G. E. Tiller; G. Esposito; A. Pizzuti; B. Da
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Article
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2003
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John Wiley and Sons
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English
β 157 KB
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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