Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier
Dig Dis Sci. 2024 Apr 2. doi: 10.1007/s10620-024-08395-9. Online ahead of print. ABSTRACT BACKGROUND: Cholesterol ester storage disorder (CESD; OMIM: 278,000) was formerly assumed to …