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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...

詳細記述

保存先:
書誌詳細
主要な著者: Tassabehji, M, Strachan, T, Sharland, M, Colley, A, Donnai, D, Harris, R, Thakker, N
フォーマット: Artigo
言語:Inglês
出版事項: 1993
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682238/
https://ncbi.nlm.nih.gov/pubmed/8317503
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