Cornelia de Lange syndrome (CdLS) presentation involves craniofacial anomalies. Mutations in seven genes have been associated with CdLS. However, the clinical presentation and mutational profiles of ...
NORTH BRANFORD, Conn. (WFSB) - Only one in every 10,000 kids are born with it. A disease so rare, a North Branford mom had never even heard of it when her daughter got the diagnosis. Fourteen years ...