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

Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.

American journal of medical genetics. Part A - 1 Apr 2023

Borja Nicholas, Zafeer Mohammad Faraz, Rodriguez Jeimy Alfonso, Morel Swols Dayna, Thorson Willa, Bademci Guney, Tekin Mustafa

Abstract excerpt

Phenotypic features of KBG syndrome include craniofacial anomalies, short stature, cognitive disability and behavioral findings. The syndrome is caused by heterozygous pathogenic single nucleotide variants and indels in ANKRD11, or a heterozygous deletion of 16q24.3 that includes ANKRD11. We performed genome sequencing on a patient with clinical manifestations of KBG syndrome including distinct craniofacial...

Read the complete abstract on PubMed

Topics

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

Share to Repressor Proteins
Share to Intellectual Disability

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Abnormalities, Multiple

Share to Bone Diseases, Developmental

Share to Chromosome Deletion

Share to Facies

Share to Tooth Abnormalities

Share to Transcription Factors

Source

Identifiers

PMID: 36628575
DOI: 10.1002/ajmg.a.63119

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.PMID 36628575Read ↗

KBG syndrome involving a single-nucleotide duplication in ANKRD11.Semantic proximity Read ↗

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.Semantic proximity Read ↗

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.Semantic proximity Read ↗

Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.Semantic proximity Read ↗

Clinical and genetic aspects of KBG syndrome.Semantic proximity Read ↗

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.Semantic proximity Read ↗

Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.Semantic proximity Read ↗

Missense variants in <i>ANKRD11</i> cause KBG syndrome by impairment of stability or transcriptional activity of the encoded proteinSemantic proximity Read ↗

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.Semantic proximity Read ↗

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.Semantic proximity Read ↗

A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion.Semantic proximity Read ↗

A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome.Semantic proximity Read ↗

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