A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature
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Publications
Gudmundsson S, Annerén G, Marcos-Alcalde Í, Wilbe M, Melin M, Gómez-Puertas P, Bondeson ML
European Journal of Medical Genetics - (-) - [2018-08-00; online 2018-08-00]
Bioinformatics Compute and Storage [Service]
Clinical Genomics Uppsala [Collaborative]
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PubMed 30125677
DOI 10.1016/j.ejmg.2018.08.007
Crossref 10.1016/j.ejmg.2018.08.007