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

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.

Cold Spring Harbor molecular case studies - 1 Nov 2017

Tanaka Akemi J, Cho Megan T, Willaert Rebecca, Retterer Kyle, Zarate Yuri A, Bosanko Katie, Stefans Vikki, Oishi Kimihiko, Williamson Amy, Wilson Golder N, Basinger Alice, Barbaro-Dieber Tina, Ortega Lucia, Sorrentino Susanna, Gabriel Melissa K, Anderson Ilse J, Sacoto Maria J Guillen, Schnur Rhonda E, Chung Wendy K

Abstract excerpt

Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the Early B-cell Transcription Factor Family Member 3 (EBF3) gene. EBF3 is a member of the collier/olfactory-1/early B-cell...

Read the complete abstract on PubMed

Topics

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

Share to Ataxia
Share to Autistic Disorder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Intellectual Disability

Share to Muscle Hypotonia

Share to Neurodevelopmental Disorders

Share to Prader-Willi Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 29162653
DOI: 10.1101/mcs.a002097
PMCID: PMC5701309

Genes

EBF3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.PMID 29162653Read ↗

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.Semantic proximity Read ↗

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.Semantic proximity Read ↗

A nonsense variant in the C-terminal transactivation domain of the EBF3 gene in an individual with intellectual disability and behavioural disorder: case report and literature review.Semantic proximity Read ↗

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.Semantic proximity Read ↗

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.Semantic proximity Read ↗

[Analysis of clinical features and EBF3 gene variant in a child with hypotonia, ataxia and developmental delay].Semantic proximity Read ↗

Integrated phenotypic and mutational approach defines EBF3-related HADD syndrome genotype-phenotype relationshipsSemantic proximity Read ↗

Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype.Semantic proximity Read ↗

Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.Semantic proximity Read ↗

Mutations in <i>EBF3</i> disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphismSemantic proximity Read ↗

Research-Based Whole Genome Sequencing Identifies Biallelic Loss of Function Variants in DOCK3 Gene Causing DOCK3-Related Disorder: The End of a Diagnostic Journey for This Family.Semantic proximity Read ↗

Rare variants in FAT3 as possible contributors to non-syndromic orofacial cleft risk.Semantic proximity Read ↗

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