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

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance

26 Dec 2024

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy and Myosin Studies
Share to Muscle Physiology and Disorders
Share to Tissue Engineering and Regenerative Medicine

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 39725690
DOI: 10.1038/s41431-024-01781-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrancePMID 39725690Read ↗

SMCHD1 genetic variants in type 2 FacioScapuloHumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.Semantic proximity Read ↗

Introduction: the expansion of clinical and molecular genetic knowledge in facioscapulohumeral muscular dystrophy (FSHD).Semantic proximity Read ↗

Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD)Semantic proximity Read ↗

Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: Workshop 9th June 2010, LUMC, Leiden, The NetherlandsSemantic proximity Read ↗

Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings.Semantic proximity Read ↗

Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophySemantic proximity Read ↗

Facioscapulohumeral DystrophySemantic proximity Read ↗

SMCHD1 variants may induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndromeSemantic proximity Read ↗

Everything, everywhere: FSHD as a model for complex genetic diseaseSemantic proximity Read ↗

Genetic modifiers of <scp>D</scp>uchenne and facioscapulohumeral muscular dystrophiesSemantic proximity Read ↗

Facioscapulohumeral Muscular Dystrophy As a Model for Epigenetic Regulation and DiseaseSemantic proximity Read ↗

Clinical and Genetic Landscape of IGHMBP2 -Related Disorders: From Novel Variants to Phenotypic Insights.Semantic proximity Read ↗

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