## 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
Electrocardiography in Noonan syndrome PTPN11 gene mutation—phenotype characterization
✍ Scribed by Ellen A. Croonen; Ineke van der Burgt; Livia Kapusta; Jos M. Th. Draaisma
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 114 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
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📜 SIMILAR VOLUMES
## 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
## Abstract Noonan syndrome (NS) is the most common non‐chromosomal syndrome seen in children and is characterized by short stature, dysmorphic facial features, chest deformity, a wide range of congenital heart defects and developmental delay of variable degree. Mutations in the Ras/mitogen‐activat