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Mild variable Noonan syndrome in a family with a novel PTPN11 mutation

✍ Scribed by Martin Zenker; Egbert Voss; André Reis

Book ID
116433002
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
282 KB
Volume
50
Category
Article
ISSN
1769-7212

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Clinical variability in a Noonan syndrom
Clinical variability in a Noonan syndrome family with a newPTPN11 gene mutation
✍ Bertola, D�bora Romeo ;Pereira, Alexandre C. ;Oliveira, Paulo S.L. de ;Kim, Chon 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 184 KB 👁 2 views

## Abstract Noonan syndrome (NS) is an autosomal dominant disorder comprising short stature, facial dysmorphism, short and/or webbed neck, heart defects, and cryptorchidism in males. The gene responsible for the disorder (__PTPN11__) was recently identified, and explains 30–50% of the cases clinica