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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G. Annéren | M. Bondeson | P. Gómez-Puertas | S. Gudmundsson | M. Wilbe | Íñigo Marcos-Alcalde | M. Melin | Sanna Gudmundsson