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

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...

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Autores principales:	Barboza Cerda, María Carmen, Barboza Quintana, Oralia, Martínez Aldape, Gerardo, Garza Guajardo, Raquel, Déctor, Miguel Angel
Formato:	Artículo
Lenguaje:	inglés
Publicado:	John Wiley & Sons 2019
Acceso en línea:	http://eprints.uanl.mx/29905/7/29905.pdf