Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.
Molecular Genetics & Genomic Medicine
Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA
Publication Date: 2019-09
Variant appearance in text: NR1H2: 425A>C; Gln142Pro; rs372890455