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Simultaneous occurrence of neurofibromatosis type 1 and tuberous sclerosis in a young girl

✍ 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

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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

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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