Congenital Short-Bowel Syndrome: Clinical and Genetic Presentation in China.

Ying Wang Shanshan ChenWeihui YanLina LuYijng TaoYongtao XiaoWei Cai

Published in: JPEN. Journal of parenteral and enteral nutrition (2020)

Infants with CSBS often need long-term PN and remain at risk of SBS-related complications. CLMP and FLNA mutations are associated with CSBS in the Chinese population.

Keyphrases

case report
genome wide
copy number
dna methylation