Recently identified MECP2 gene mutation linked to congenital Rett syndrome…
A new mutation has been discovered in the MECP2 gene – associated with most cases of Rett syndrome – in a toddler with clinical features suggestive of congenital variant-type Rett syndrome, one of the most severe atypical forms of the disease. The child had hypercapnia, or high levels of carbon dioxide in her blood, but …
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