Article
Rare and de novo duplications containing SHOX in clubfoot.
Journal of medical genetics - 1 Dec 2020
Sadler Brooke, Haller Gabe, Antunes Lilian, Nikolov Momchil, Amarillo Ina, Coe Bradley, Dobbs Matthew B, Gurnett Christina A
Abstract excerpt
INTRODUCTION: Congenital clubfoot is a common birth defect that affects at least 0.1% of all births. Nearly 25% cases are familial and the remaining are sporadic in inheritance. Copy number variants (CNVs) involving transcriptional regulators of limb development, including PITX1 and TBX4, have previously been shown to cause familial clubfoot, but much of the heritability remains unexplained. METHODS: Exome...
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