Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes

Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes

Abstract 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...

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Bibliographic Details
Main Authors: María Carmen Barboza‐Cerda, Oralia Barboza‐Quintana, Gerardo Martínez‐Aldape, Raquel Garza‐Guajardo, Miguel Angel Déctor
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ABCA1
APOA5
APOB
emopamil‐binding protein
MEND syndrome
modifier genes
Online Access:https://doi.org/10.1002/mgg3.931

Internet

https://doi.org/10.1002/mgg3.931

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