https://www.selleckchem.com/pr....oducts/coelenterazin
This study highlights the importance of considering the parental perspective in the context of genetic testing in clinical practice. This study highlights the importance of considering the parental perspective in the context of genetic testing in clinical practice.Fibrillin-2, encoded by FBN2, plays an important role in the early process of elastic fiber assembly. To date, heterozygous pathogenic variants in FBN2 have been shown to cause congenital contractural arachnodactyly (CCA; Beals-Hecht syndrome). Classical CCA is characte
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