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

Open a Topic to create a Post that cites this publication.

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

Identifiers and source

Literature Corpus work

4b90799a-d45d-5136-84c3-07bcfd5cbefd

DOI

10.21203/rs.3.rs-7645057/v1