A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly

Am J Med Genet A. 2021 Aug;185(8):2586-2592. doi: 10.1002/ajmg.a.62238. Epub 2021 May 1.

Authors

Alice P Rogers¹, Kathryn Friend², Lesley Rawlings³, Christopher P Barnett¹

Affiliations

¹ Women's and Children's Hospital, Paediatric and Reproductive Genetics Unit, North Adelaide, South Australia, Australia.
² Genetics and Molecular Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
³ Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.

PMID: 33931951
DOI: 10.1002/ajmg.a.62238

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Developmental Disabilities / diagnosis
Developmental Disabilities / genetics
Dwarfism / diagnosis
Dwarfism / genetics
Genetic Association Studies*
Genetic Predisposition to Disease*
Humans
Macroglossia / diagnosis
Macroglossia / genetics
Mediator Complex / genetics*
Megalencephaly / diagnosis
Megalencephaly / genetics
Mutation, Missense*
Phenotype*

Substances

MED13 protein, human
Mediator Complex