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Gerstmann tetrad in Leopard syndrome

✍ Scribed by Garty, Ben-Zion; Waisman, Yehezkel; Weitz, Raphael


Book ID
122812220
Publisher
Elsevier Science
Year
1989
Tongue
English
Weight
389 KB
Volume
5
Category
Article
ISSN
0887-8994

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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