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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Detalles Bibliográficos
Autores principales: Barboza‐Cerda, María Carmen, Barboza‐Quintana, Oralia, Martínez‐Aldape, Gerardo, Garza‐Guajardo, Raquel, Déctor, Miguel Angel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732292/
https://www.ncbi.nlm.nih.gov/pubmed/31397093
http://dx.doi.org/10.1002/mgg3.931

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732292/
https://www.ncbi.nlm.nih.gov/pubmed/31397093
http://dx.doi.org/10.1002/mgg3.931

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