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Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

✍ Scribed by Musante, Luciana; Kehl, Hans G; Majewski, Frank; Meinecke, Peter; Schweiger, Susann; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Hinkel, Georg K; Tinschert, Sigrid; Hoeltzenbein, Maria


Book ID
110025352
Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
120 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