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Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family

✍ Scribed by Eric Pasmant; Jeanne Amiel; Diana Rodriguez; Michel Vidaud; Dominique Vidaud; Béatrice Parfait


Book ID
115549352
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
63 KB
Volume
158A
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), neurofibromatosis‐Noonan syndrome (NFNS), partial LEOPARD syndrome, NS with features of NF1, and NF1 with Noonan‐like