WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy that affects multiple organs, leading to retinitis pigmentosa, polydactyly, obesity, renal anomalies, cognitive impairment, and hypogonadism. Until now, biallelic pathogenic variants have been identified in at least 24 genes delineatin...

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Detalles Bibliográficos
Autores principales: Karam, Adella, Delvallée, Clarisse, Estrada-Cuzcano, Alejandro, Geoffroy, Véronique, Lamouche, Jean-Baptiste, Leuvrey, Anne-Sophie, Nourisson, Elsa, Tarabeux, Julien, Stoetzel, Corinne, Scheidecker, Sophie, Porter, Louise Frances, Génin, Emmanuelle, Redon, Richard, Sandron, Florian, Boland, Anne, Deleuze, Jean-François, Le May, Nicolas, Dollfus, Hélène, Muller, Jean
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218572/
https://www.ncbi.nlm.nih.gov/pubmed/37240074
http://dx.doi.org/10.3390/ijms24108729

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218572/
https://www.ncbi.nlm.nih.gov/pubmed/37240074
http://dx.doi.org/10.3390/ijms24108729

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