Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Publikation: Bidrag til tidsskrift › Review › Forskning › fagfællebedømt
Dokumenter
- s41576-018-0031-0
Forlagets udgivne version, 1,97 MB, PDF-dokument
Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.
Originalsprog | Engelsk |
---|---|
Tidsskrift | Nature Reviews. Genetics |
Vol/bind | 19 |
Sider (fra-til) | 649-666 |
ISSN | 1471-0056 |
DOI | |
Status | Udgivet - 2018 |
Antal downloads er baseret på statistik fra Google Scholar og www.ku.dk
ID: 216504821