Analysis of <scp>PRICKLE</scp>1 in human cleft palate and mouse development demonstrates rare and common variants involved in human malformations

Abstract excerpt

Palate development is shaped by multiple molecular signaling pathways, including the Wnt pathway. In mice and humans, mutations in both the canonical and noncanonical arms of the Wnt pathway manifest as cleft palate, one of the most common human birth defects. Like the palate, numerous studies also link different Wnt signaling perturbations to varying degrees of limb malformation; for example, shortened limbs...

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