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Sodium taurocholate cotransporter polypeptide deficiency with α-Thalassemia and Coffin-Siris syndrome
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  • Jiwei Li,
  • Meifen Wang,
  • Mingying Wang,
  • Juan Li,
  • Qi Shao,
  • Zhiying Lu,
  • Suqi Xu,
  • Junchao Peng,
  • Rui Chen
Jiwei Li
Kunming Medical University

Corresponding Author:[email protected]

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Meifen Wang
Kunming Medical University
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Mingying Wang
Kunming Medical University
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Juan Li
Kunming Medical University
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Qi Shao
Kunming Medical University
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Zhiying Lu
Kunming Medical University
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Suqi Xu
Kunming Medical University
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Junchao Peng
Kunming Medical University
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Rui Chen
Kunming Medical University
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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.