Title: Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene
Authors: Bukowska-Olech E, Gawliński P, Jakubiuk-Tomaszuk A, Jędrzejowska M, Obersztyn E, Claes K, Piechota M, Jamsheer A.
Journal: Orphanet Journal of Rare Diseases
Publication type: article
DOI: 10.1186/s13023-021-01914-1