Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations
Bardet-Biedl综合征诊断标准和治疗方案改进:欧洲参考网络共识声明和建议
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01634-7
Dollfus, Hélène; Lilien, Marc R; Maffei, Pietro; Verloes, Alain; Muller, Jean; Bacci, Giacomo M; Cetiner, Metin; van den Akker, Erica L T; Grudzinska Pechhacker, Monika; Testa, Francesco; Lacombe, Didier; Stokman, Marijn F; Simonelli, Francesca; Gouronc, Aurélie; Gavard, Amélie; van Haelst, Mieke M; Koenig, Jens; Rossignol, Sylvie; Bergmann, Carsten; Zacchia, Miriam; Leroy, Bart P; Mosbah, Héléna; Van Eerde, Albertien M; Mekahli, Djalila; Servais, Aude; Poitou, Christine; Valverde, Diana