Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes-Reference-Cited by-同舟云学术

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

Published:2019-08-08 Issue:9 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Barboza‐Cerda María Carmen¹²^ORCID,Barboza‐Quintana Oralia¹^ORCID,Martínez‐Aldape Gerardo¹,Garza‐Guajardo Raquel¹^ORCID,Déctor Miguel Angel¹²^ORCID

Affiliation:

1. Facultad de Medicina y Hospital Universitario “Dr. José E. González” Servicio de Anatomía Patológica y Citopatología, Universidad Autónoma de Nuevo León Monterrey Nuevo León Mexico

2. Facultad de Medicina y Hospital Universitario “Dr. José E. González”, Departamento de Bioquímica y Medicina Molecular Universidad Autónoma de Nuevo León Monterrey Nuevo León Mexico

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.931

Reference59 articles.

1. A method and server for predicting damaging missense mutations

2. Quantitative analysis of five sterols in amniotic fluid by GC–MS: Application to the diagnosis of cholesterol biosynthesis defects

3. Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects)

4. The origin of fetal sterols in second-trimester amniotic fluid: endogenous synthesis or maternal-fetal transport?

5. A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21

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