A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature

Citation
Gudmundsson, S., Annerén, G., Marcos-Alcalde, Í., Wilbe, M., Melin, M., Gómez-Puertas, P., & Bondeson, M.-L. (2019). A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature. European Journal of Medical Genetics, 62(6), 103526. https://doi.org/10.1016/j.ejmg.2018.08.007
DOI:
DOI: 10.1016/j.ejmg.2018.08.007
Year of publication:
2019