Article
[Fragile X syndrome and white matter abnormalities: Case study of two brothers].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Mar 2017
Wallach E, Bieth E, Sevely A, Cances C
Abstract excerpt
Fragile X syndrome is the most usual cause of hereditary intellectual deficiency. Typical symptoms combine intellectual deficiency, social anxiety, intense emotional vigilance, and a characteristic facial dysmorphy. This is subsequent to a complete mutation of the FMR1 gene, considering a semidominant transmission linked to the unstable X. The expansion of the CGG triplet greater than 200 units combined with a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
