Only four people in Australia have been diagnosed with rare genetic disease CHOPS
Isla Steed is your fairly typical teenager, according to her mum. The 14-year-old is “a stubborn little person”…
Insights into clinical features and genetic variants of Cornelia de Lange syndrome in China
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder with symptoms, including facial anomalies (such as fused…