General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation

The fragile X syndrome, which often presents in childhood with overgrowth, may in some cases show some diagnostic overlap with classical Sotos syndrome. We describe four fragile X patients with general overgrowth, all of whom are from families with other affected relatives who show the classic Marti...

詳細記述

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書誌詳細
主要な著者: Vries, Bert B A de, Robinson, Hazel, Stolte-Dijkstra, Irene, Gi, Cecil V Tjon Pian, Dijkstra, Piet F, Doorn, Jaap van, Halley, Dicky J J, Oostra, Ben A, Turner, Gillian, Niermeijer, Martinus F
フォーマット: Artigo
言語:Inglês
出版事項: 1995
主題:
Original Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051696/
https://ncbi.nlm.nih.gov/pubmed/8558551
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