Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes

Am J Med Genet A. 2021 Aug;185(8):2582-2585. doi: 10.1002/ajmg.a.62233. Epub 2021 Apr 29.

Authors

Aixa Gonzalez¹, Sunaina Kapur¹, Matthew Walsh¹, Jaime Vengoechea^{1

2}

Affiliations

¹ Department of Human Genetics, Emory University, Atlanta, Georgia, USA.
² Department of Medicine, Emory University, Atlanta, Georgia, USA.

PMID: 33913598
DOI: 10.1002/ajmg.a.62233

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Child
Female
Genetic Association Studies* / methods
Genetic Predisposition to Disease*
Humans
Mediator Complex / genetics*
Mutation, Missense*
Phenotype*

Substances

MED12 protein, human
Mediator Complex