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3MC syndrome type 3 is an autosomal recessive disorder caused by mutations in the COLEC10gene besides other genes like COLEC11 and MASP1. This disorder is characterized by facial dysmorphism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss, craniosynostosis, radioulnar synostosis, genital and vesicorenal anomalies, cardiac anomalies, caudal appendage, and umbilical hernia. In the present study, whole-exome sequencing was performed in order to identify disease causing variant in an Iranian 7-year-old
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