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Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

Type 1 neurofibromatosis (NF1), Watson syndrome (WS), and Noonan syndrome (NS) show some overlap in clinical manifestations. In addition, WS has been shown to be linked to markers flanking the NF1 locus and a deletion at the NF1 locus demonstrated in a WS patient. This suggests either that WS and NF...

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Detaylı Bibliyografya
Asıl Yazarlar: Tassabehji, M, Strachan, T, Sharland, M, Colley, A, Donnai, D, Harris, R, Thakker, N
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1993
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682238/
https://ncbi.nlm.nih.gov/pubmed/8317503
Etiketler: Etiketle
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