Atıf İçin Kopyala
Terzi Y. K., Sirin B., Serdaroglu E., Anlar B., Aysun S., Hosgor G., ...Daha Fazla
CHILDS NERVOUS SYSTEM, cilt.27, sa.12, ss.2113-2116, 2011 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
27
Sayı:
12
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Basım Tarihi:
2011
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Doi Numarası:
10.1007/s00381-011-1512-z
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Dergi Adı:
CHILDS NERVOUS SYSTEM
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Sayfa Sayıları:
ss.2113-2116
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Anahtar Kelimeler:
Neurofibromatosis type 1, Phenotype, Genotype-phenotype correlation, Mutation, NEUROFIBROMATOSIS TYPE-1, GENOTYPE
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Ankara Üniversitesi Adresli:
Hayır
Özet
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by caf,-au-lait spots, neurofibromas, skinfold freckles, Lisch nodules, bone deformities, learning disabilities, and predisposition to neoplasms. It is caused by various mutations of the NF1 gene. Recently a 3-bp in-frame deletion in exon 17, c.2970-2972 delAAT mutation, has been associated with a milder phenotype of NF1 manifesting with pigmentary skin changes only.