Although the exact prevalence of Cornelia de Lange syndrome is unknown, it is estimated that the disorder affects 1 in every 10,000 to 30,000 newborn children. The features of Cornelia de Lange can be ...
Although the exact prevalence of Cornelia de Lange syndrome is unknown, it is estimated that the disorder affects 1 in every 10,000 to 30,000 newborn children. The features of Cornelia de Lange can be ...
This underscores the importance of a multidisciplinary approach to managing the various health challenges associated with the syndrome. Cohesin complex: A group of proteins that play a critical ...
a Fleming Nuffield Child Psychiatry Unit, Burden Terrace, Newcastle upon Tyne NE2 3AE, UK, b Department of Human Genetics, University of Newcastle upon Tyne A postal questionnaire was used to study 49 ...
Mutations that affect cohesin genes cause the human developmental disorder Cornelia de Lange syndrome (CdLS). Mouse models of CdLS show placental abnormalities such as increased placental size and ...
Based on survey data, individuals with Cornelia de Lange Syndrome (CdLS) often experience symptoms of autonomic dysfunction however there are no reported studies in which these patients have had ...
He contributed to many aspects of genetic research including a case series of 20 babies with Cornelia de Lange syndrome and the suggestion that placental sampling could be used as a screening tool. He ...