Neurofibromatosis type 1 (NF1), a genetic disorder with neuroectodermal involvement, demonstrates phenotypic overlap in some patients with Noonan syndrome (NS), ultimately resulting in the so-called neurofibromatosis-Noonan syndrome (NF-NS). A strong association of the two phenotypic traits was rece
✦ LIBER ✦
A new nonsense mutation in the NF1 gene with neurofibromatosis–Noonan syndrome phenotype
✍ Scribed by Yimenicioğlu, Sevgi; Yakut, Ayten; Karaer, Kadri; Zenker, Martin; Ekici, Arzu; Çarman, Kürşat Bora
- Book ID
- 118783286
- Publisher
- Springer
- Year
- 2012
- Tongue
- English
- Weight
- 159 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0256-7040
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