Screening for the fragile X syndrome among the mentally retarded: a clinical study

The fragile X syndrome is characterised by mental retardation with other features such as a long face with large, protruding ears, macro-orchidism, and eye gaze avoidance. This X linked disorder is caused by an expanded CGG repeat in the first exon of the fragile X mental retardation (FMR1) gene whi...

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Autori principali: de Vries, B. B A, Mohkamsing, S., van den Ouweland, A. M W, Mol, E., Gelsema, K., van Rijn, M., Tibben, A., Halley, D., Duivenvoorden, H., Oostra, B., Niermeijer, M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 1999
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734387/
https://ncbi.nlm.nih.gov/pubmed/10874635
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