Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier

ConclusionsPhenotypic analyses indicate that this may be an autosomal dominant nonclassical CESD pedigree with aLIPA gene mutation.
Source: Digestive Diseases and Sciences - Category: Gastroenterology Source Type: research