Expanding the Genetic Landscape of Craniofacial Anomalies Through Transcriptome-Wide Association Studies

Abstract excerpt

<title>Abstract</title> <p>Background Craniofacial anomalies are common congenital anomalies that significantly contribute to infant mortality and life-long health problems. Studies of craniofacial anomalies have identified several genetic causes, but focus on rare, Mendelian presentations. Despite this, current diagnostic genetic testing only identifies a causal genomic variant in ~ 25% of affected individuals....

Topics

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• Bone and Bones
• Child
• Craniofacial Abnormalities
• Genome-Wide Association Study
• High-Throughput Nucleotide Sequencing
• Mutation
• Pregnancy
• Transcriptome

Identifiers and source

Literature Corpus work

d38a9f54-c064-545f-afde-8a222ae64460

DOI

10.21203/rs.3.rs-8328679/v1