Article
CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability.
Developmental biology - 1 Jul 2023
Deniz E, Pasha M, Guerra M E, Viviano S, Ji W, Konstantino M, Jeffries L, Lakhani S A, Medne L, Skraban C, Krantz I, Khokha M K
Abstract excerpt
Congenital heart disease (CHD) is the most common and lethal birth defect, affecting 1.3 million individuals worldwide. During early embryogenesis, errors in Left-Right (LR) patterning called Heterotaxy (Htx) can lead to severe CHD. Many of the genetic underpinnings of Htx/CHD remain unknown. In analyzing a family with Htx/CHD using whole-exome sequencing, we identified a homozygous recessive missense mutation in...
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