Simultaneous occurrence of neurofibromatosis type 1 and tuberous sclerosis in a young girl
β Scribed by Patricia G. Wheeler; Ab Sadeghi-Nejad
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 92 KB
- Volume
- 133A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Neurofibromatosis type 1 (NF1) is a dominant disorder caused by mutations in the NF1 gene; approximately 100 NF1 gene mutations have been published. The CpG C-to-T transition is a frequent mutation mechanism in genetic disorders. To estimate its frequency in NF1, we employed a PCR-restriction digest
## 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