Reproductive failure in a patient with neurofibromatosis-noonan syndrome
β Scribed by Meschede, Dieter ;Froster, Ursula G. ;Gullotta, Filippo ;Nieschlag, Eberhard
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 658 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0148-7299
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A large four-generation family with Noonan syndrome (NS) and neurofibromatosis-type 1 (NF1) was studied for clinical association between the two diseases and for linkage analysis with polymorphic DNA markers of the NF1 region in 17q11.2. Nonrandom segregation between NS and "1 phenotypes was observe
Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial anomalies, webbed neck, sternal deformity, heart defects, and, in males, cryptorchidism. PTPN11 encodes SHP2, an important component of several signal transduction pathways that acts as a positive regulator