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An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene.

Fragile X syndrome is the most common form of inherited mental retardation and results from the transcriptional inactivation of the FMR1 gene. In the vast majority of cases, this is caused by the expansion of an unstable CGG repeat in the first exon of the FMR1 gene. We describe here a phenotypicall...

詳細記述

保存先:
書誌詳細
主要な著者: Quan, F, Zonana, J, Gunter, K, Peterson, K L, Magenis, R E, Popovich, B W
フォーマット: Artigo
言語:Inglês
出版事項: 1995
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801461/
https://ncbi.nlm.nih.gov/pubmed/7726157
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