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PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning

✍ Scribed by Schollen, Els; Matthijs, Gert; Gewillig, Marc; Fryns, Jean-Pierre; Legius, Eric

Book ID
110025334
Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
185 KB
Volume
11
Category
Article
ISSN
1018-4813

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## Abstract Reports on Noonan syndrome (NS) have documented multiple types of coagulation defects and bleeding diathesis, and a wide range of clinical presentations. Early studies suggested that a large proportion of NS patients have coagulation defects, whereas more recent reports indicate low rat