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Article

Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review.

American journal of medical genetics. Part A - 1 Dec 2021

Cooley Coleman Jessica A, Sarasua Sara M, Boccuto Luigi, Moore Hannah Warren, Skinner Steven A, DeLuca Jane M

Abstract excerpt

MEF2C-related disorders (aka MEF2C-haploinsufficiency) are caused by variations in or involving the MEF2C gene and are characterized by intellectual disability, developmental delay, lack of speech, limited walking, and seizures. Despite these findings, the disorder is not easily recognized clinically. We performed a systematic review following Preferred Reporting Items for Systematic Reviews and Meta-Analyses...

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Identifiers

PMID: 34184825
DOI: 10.1002/ajmg.a.62412

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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