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http://purl.uniprot.org/citations/22965773http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/22965773http://www.w3.org/2000/01/rdf-schema#comment"

Purpose

Neurofibromatosis-Noonan syndrome is a rare autosomal dominant disorder which combines neurofibromatosis type 1 (NF1) features with Noonan syndrome. NF1 gene mutations are reported in the majority of these patients.

Method

Sequence analysis of the established genes for Noonan syndrome revealed no mutation; a heterozygous NF1 point mutation c.7549C>T in exon 51, creating a premature stop codon (p.R2517X), had been demonstrated.

Result

Neurofibromatosis-Noonan syndrome recently has been considered a subtype of NF1 and caused by different NF1 mutations.

Conclusion

We report the case of a 14-year-old boy with neurofibromatosis type 1 with Noonan-like features, who complained of headache with triventricular hydrocephaly and a heterozygous NF1 point mutation c.7549C>T in exon 51."xsd:string
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http://purl.uniprot.org/citations/22965773http://purl.uniprot.org/core/author"Ekici A."xsd:string
http://purl.uniprot.org/citations/22965773http://purl.uniprot.org/core/author"Zenker M."xsd:string
http://purl.uniprot.org/citations/22965773http://purl.uniprot.org/core/author"Karaer K."xsd:string
http://purl.uniprot.org/citations/22965773http://purl.uniprot.org/core/author"Yakut A."xsd:string
http://purl.uniprot.org/citations/22965773http://purl.uniprot.org/core/author"Carman K.B."xsd:string
http://purl.uniprot.org/citations/22965773http://purl.uniprot.org/core/author"Yimenicioglu S."xsd:string
http://purl.uniprot.org/citations/22965773http://purl.uniprot.org/core/date"2012"xsd:gYear
http://purl.uniprot.org/citations/22965773http://purl.uniprot.org/core/name"Childs Nerv Syst"xsd:string
http://purl.uniprot.org/citations/22965773http://purl.uniprot.org/core/pages"2181-2183"xsd:string
http://purl.uniprot.org/citations/22965773http://purl.uniprot.org/core/title"A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype."xsd:string
http://purl.uniprot.org/citations/22965773http://purl.uniprot.org/core/volume"28"xsd:string
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