Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway
挪威成年人巴德-比德尔综合征的临床和遗传学特征
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03641-3
Rustad, Cecilie Fremstad; Bragadottir, Ragnheidur; Tveten, Kristian; Nordgarden, Hilde; Miller, Jeanette Ullmann; Åsten, Pamela Marika; Vasconcelos, Gisela; Kulseth, Mari Ann; Holla, Øystein Lunde; Olsen, Hanne Gro; von der Lippe, Charlotte; Sigurdardottir, Solrun