18
Feb
Xia-Gibbs syndrome
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Xia-Gibbs syndrome (XGS) is a rare disorder manifested by intellectual disability, speech delay, hypotonia, scoliosis, delayed brain myelination, and a large cisterna magna. In most cases XGS is caused by mutations in the AHDC1 gene, located at 1p36.11p35.3. Bertrand et al. presented two patients with XGS who had small deletions... Read More
