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A novel mutation in thePTPN11gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy

✍ 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 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