Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?

Whole-exome sequencing (WES) is now a relatively straightforward process to identify causal variants in Mendelian disorders. However, the same is not true for WES in families where the inheritance patterns are less clear, and a complex etiology is suspected. Orofacial clefts (OFCs) are highly herita...

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Detalles Bibliográficos
Autores principales: Perez, Kimberly K. Diaz, Chung, Sydney, Head, S. Taylor, Epstein, Michael P., Hecht, Jacqueline T., Wehby, George L., Weinberg, Seth M., Murray, Jeffrey C., Marazita, Mary L., Leslie, Elizabeth J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9934724/
https://www.ncbi.nlm.nih.gov/pubmed/36798250
http://dx.doi.org/10.1101/2023.02.01.23285340

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9934724/
https://www.ncbi.nlm.nih.gov/pubmed/36798250
http://dx.doi.org/10.1101/2023.02.01.23285340

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