Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?
Kimberly K. Diaz Perez, Sydney Chung, S. Taylor Head, Michael P. Epstein, Jacqueline T. Hecht, George L. Wehby, Seth Michael Weinberg, Jeffrey Clark Murray, Mary L. Marazita, Elizabeth J. Leslie
The paper uses whole-exome sequencing to identify rare variants in multiplex families with orofacial clefts, finding variants in seven families but no clear evidence that subclinical phenotypes clarify inheritance patterns.
American Journal of Medical Genetics Part A · Jun 23, 2023Peer-reviewedGenetic & Genomic Medicine