Comprehensive investigation of the phenotype of MEF2C ‐related disorders in human patients: A systematic review
Author:
Affiliation:
1. School of Nursing Clemson University Clemson South Carolina USA
2. Greenwood Genetic Center Greenwood South Carolina USA
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62412
Reference43 articles.
1. Jugular pit associated with 5q14.3 deletion incorporating the MEF2C locus
2. Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C
3. Refining the phenotype associated with MEF2C point mutations
4. MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review
5. Molecular characterization of a cohort of 73 patients with infantile spasms syndrome
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