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Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene

✍ Scribed by G. Perrin; M.A. Morris; S.E. Antonarakis; E. Boltshauser; P. Hutter


Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
269 KB
Volume
7
Category
Article
ISSN
1059-7794

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Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders in humans with an incidence of 1 in 3500. Most of the NF1 mutations reported so far (over 240 mutations) are unique. Specific prenatal diagnosis can only be provided to familial cases by an indirect linkage analysis or to fam

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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