https://www.selleckchem.com/pr....oducts/pnd-1186-vs-4
A strictly biochemical and neurological follow up was performed and no sign of neurological impairment was observed. Conclusions Prompt diagnosis and treatment of CTX presenting as neonatal cholestasis may prevent further neurological impairment.Background Branchio-oculo-facial syndrome (BOFS) is a rare congenital developmental disorder with highly variable clinical phenotypes in autosomal dominant inheritance. The aim of this study is to identify disease-causing mutations in a Chinese family with predominant coloboma of choroi
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