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