Publications by authors named "Gerardo Martinez-Aldape"
Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.
María Carmen Barboza-Cerda Oralia Barboza-Quintana Gerardo Martínez-Aldape Raquel Garza-Guajardo Miguel Angel Déctor
Mol Genet Genomic Med
September 2019
Background: Male EBP disorder with neurologic defects (MEND) syndrome is an X-linked disease caused by hypomorphic mutations in the EBP (emopamil-binding protein) gene. Modifier genes may explain the clinical variability among individuals who share a primary mutation.
Methods: We studied four males (Patient 1 to Patient 4) exhibiting a descending degree of phenotypic severity from a family with MEND syndrome.