authorea

Authorea

10.22541/au.165095289.93954166/v1

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

0000-0002-1903-0731

Jiwei

Kunming Medical University

Wang

Meifen

Kunming Medical University

Wang

Mingying

Kunming Medical University

Juan

Kunming Medical University

Shao

Kunming Medical University

Zhiying

Kunming Medical University

Suqi

Kunming Medical University

Peng

Junchao

Kunming Medical University

Chen

Rui

Kunming Medical University

26 4 2022

This preprint is available at https://doi.org/10.22541/au.165095289.93954166/v1

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.

arid1a gene coffin-siris syndrome slc10a1 gene sodium taurocholate cotransporter polypeptide deficiency α-thalassemia