Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations

发表于 2026-7-9 11:26:24

期刊：European Journal of Human Genetics

文献作者：Hélène Dollfus; Marc R. Lilien; Pietro Maffei; Alain Verloes; Jean Muller; Giacomo M. Bacci; Metin Cetiner; Erica L. T. van den Akker; Monika Grudzinska Pechhacker; Francesco Testa; Didier Lacombe; Marijn F. Stokman; Francesca Simonelli; Aurélie Gouronc; Amélie Gavard; Mieke M. van Haelst; Jens Koenig; Sylvie Rossignol; Carsten Bergmann; Miriam Zacchia; Bart P. Leroy; Héléna Mosbah; Albertien M. Van Eerde; Djalila Mekahli; Aude Servais; Christine Poitou; Diana Valverde

出版日期：2024-11-

DOI号：10.1038/s41431-024-01634-7

下载链接：https://www.nature.com/articles/s41431-024-01634-7.pdf

文献链接：https://doi.org/10.1038/s41431-024-01634-7

当前文献来源于 Springer Science and Business Media LLC。

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[Nature] Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations

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