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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We report on two independent alterations of the NF1 gene in a three-generation kindred with neurofibromatosis type 1 (NF1). Using temperature gradient gel electrophoresis (TGGE) in a mutation analysis of exon 31 of the NF1 gene we detected the previously reported nonsense mutation R1947X. This Cto-T
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
## 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