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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...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory
2023
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| Materias: | |
| 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 |