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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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Bibliografiske detaljer
Main Authors: Tassabehji, M, Strachan, T, Sharland, M, Colley, A, Donnai, D, Harris, R, Thakker, N
Format: Artigo
Sprog:Inglês
Udgivet: 1993
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682238/
https://ncbi.nlm.nih.gov/pubmed/8317503
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