Article
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?
American journal of medical genetics. Part A - 1 Oct 2023
Diaz Perez Kimberly K, 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
Abstract excerpt
Exome sequencing (ES) is now a relatively straightforward process to identify causal variants in Mendelian disorders. However, the same is not true for ES in families where the inheritance patterns are less clear, and a complex etiology is suspected. Orofacial clefts (OFCs) are highly heritable birth defects with both Mendelian and complex etiologies. The phenotypic spectrum of OFCs may include overt clefts and...
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