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Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome

✍ Scribed by Marco Tartaglia; Viviana Cordeddu; Hong Chang; Adam Shaw; Kamini Kalidas; Andrew Crosby; Michael A. Patton; Mariella Sorcini; Ineke van der Burgt; Steve Jeffery; Bruce D. Gelb


Book ID
119770030
Publisher
American Society of Human Genetics
Year
2004
Tongue
English
Weight
94 KB
Volume
75
Category
Article
ISSN
0002-9297

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πŸ“œ SIMILAR VOLUMES


PTPN11 Mutations in Noonan syndrome type
✍ M. Maheshwari; J. Belmont; S. Fernbach; T. Ho; L. Molinari; I. Yakub; F. Yu; A. πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 228 KB

We surveyed 16 subjects with the clinical diagnosis of Noonan Syndrome (NS1) from 12 families and their relevant family members for mutations in PTPN11/SHP2 using direct DNA sequencing. We found three different mutations among five families. Two unrelated subjects shared the same de novo missense su