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
β¦ LIBER β¦
Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes
β Scribed by Anna Sarkozy; Annalisa Schirinzi; Francesca Lepri; Irene Bottillo; Alessandro De Luca; Antonio Pizzuti; Marco Tartaglia; Maria Cristina Digilio; Bruno Dallapiccola
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 75 KB
- Volume
- 143A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract Signs of neurofibromatosis type 1 (NF1) and Noonan syndrome (NS), two distinct autosomal dominant disorders, occur together in patients reported as Watson syndrome (WS), neurofibromatosisβNoonan syndrome (NFNS), partial LEOPARD syndrome, NS with features of NF1, and NF1 with Noonanβlike
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