A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome

The majority of heterotaxy cases do not obtain a molecular diagnosis, although pathogenic variants in more than 50 genes are known to cause heterotaxy. A heterozygous missense variant in DAND5, a nodal inhibitor, which functions in early development for establishment of right–left patterning, has be...

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Detalles Bibliográficos
Autores principales: Ganapathi, Mythily, Buchovecky, Christie M., Cristo, Fernando, Ahimaz, Priyanka, Ruzal-Shapiro, Carrie, Wou, Karen, Inácio, José M., Iglesias, Alejandro, Belo, José A., Jobanputra, Vaidehi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808554/
https://www.ncbi.nlm.nih.gov/pubmed/36316122
http://dx.doi.org/10.1101/mcs.a006248

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808554/
https://www.ncbi.nlm.nih.gov/pubmed/36316122
http://dx.doi.org/10.1101/mcs.a006248

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