Open AccessSevere and Early Hepatic Failure in A Neonate: A New CFTR Mutation Associated with Medium-Chain Acyl-CoA Deficiency
Author(s) -
Silvana El Zoghbi,
Constance Barazzone-Argiroffo,
Thierry Nouspikel,
AnneLaure Rougemont,
LaetitiaMarie Petit,
Anne Mornand
Publication year - 2021
Publication title -
frontiers in medical case reports
Language(s) - English
Resource type - Journals
ISSN - 2582-8142
DOI - 10.47746/fmcr.2021.2503
Subject(s) - mutation , medicine , chemistry , gastroenterology , biochemistry , gene