A novel mutation in thePTPN11gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy
β Scribed by Kunihiko Takahashi; Shigetoyo Kogaki; Shunji Kurotobi; Sayaka Nasuno; Makiko Ohta; Hitomi Okabe; Kazuko Wada; Norio Sakai; Masako Taniike; Keiichi Ozono
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 226 KB
- Volume
- 164
- Category
- Article
- ISSN
- 0340-6997
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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
## 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 30β50% of the cases clinica