Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical findings from the landmark MEF2C-related disorders natural history study.

Molecular genetics & genomic medicine - 1 Jun 2022

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

Abstract excerpt

INTRODUCTION: MEF2C-related disorders are characterized by developmental and cognitive delay, limited language and walking, hypotonia, and seizures. A recent systematic review identified 117 patients with MEF2C-related disorders across 43 studies. Despite these reports, the disorder is not easily recognized and assessments are hampered by small sample sizes. Our objective was to gather developmental and clinical...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Intellectual Disability
Share to MEF2 Transcription Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Hypotonia

Share to Phenotype

Share to Seizures

Source

Open in PubMed Open full text

Identifiers

PMID: 35416405
DOI: 10.1002/mgg3.1919
PMCID: PMC9184670

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical findings from the landmark MEF2C-related disorders natural history study.PMID 35416405Read ↗

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

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study.Semantic proximity Read ↗

Natural history of adults with KBG syndrome: A physician-reported experience.Semantic proximity Read ↗

MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.Semantic proximity Read ↗

Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review.Semantic proximity Read ↗

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).Semantic proximity Read ↗

MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature reviewSemantic proximity Read ↗

The LORIS MyeliNeuroGene Rare Disease Database for Natural History Studies and Clinical Trial ReadinessSemantic proximity Read ↗

Natural history and life-threatening complications in Myhre syndrome and review of the literature.Semantic proximity Read ↗

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment statusSemantic proximity Read ↗

A Natural History Study of Timothy SyndromeSemantic proximity Read ↗

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.