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

Craniofacial Phenotypes and Genetics of DiGeorge Syndrome

13 May 2022

Abstract excerpt

The 22q11.2 deletion is one of the most common genetic microdeletions, affecting approximately 1 in 4000 live births in humans. A 1.5 to 2.5 Mb hemizygous deletion of chromosome 22q11.2 causes DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). DGS/VCFS are associated with prevalent cardiac malformations, thymic and parathyroid hypoplasia, and craniofacial defects. Patients with DGS/VCFS manifest...

Read the complete abstract on PubMed

Topics

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

Share to Congenital heart defects research
Share to Congenital Heart Disease Studies
Share to Tracheal and airway disorders

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

Source

Identifiers

PMID: 35645294
DOI: 10.3390/jdb10020018

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 17 Oct 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

Craniofacial Phenotypes and Genetics of DiGeorge SyndromePMID 35645294Read ↗

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.Semantic proximity Read ↗

Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome.Semantic proximity Read ↗

The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1.Semantic proximity Read ↗

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1.Semantic proximity Read ↗

Beta-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1.Semantic proximity Read ↗

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosageSemantic proximity Read ↗

Dissecting contiguous gene defects: TBX1.Semantic proximity Read ↗

The 22q11.2 deletion syndrome.Semantic proximity Read ↗

UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes?Semantic proximity Read ↗

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.Semantic proximity Read ↗

Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.Semantic proximity Read ↗

22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.Semantic proximity Read ↗

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