Sodium taurocholate cotransporter polypeptide deficiency with α-Thalassemia and Coffin-Siris syndrome

NTCPD, α-Thalassemia and CSS are three hereditary diseases associated with autosome. Especially, NTCPD and CSS are rarely reported in children. However, the co-occurrence of the three hereditary diseases occurred in a child, and presented complex and diverse genotypes and phenotypes, which has never been described.