Article

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Cinical Approach

2023-04-20

Abstract excerpt

The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features making the diagnosis challenging for clinicians. The wide spectrum of clinical manifestations includes congenital heart defects, most frequently conotruncal cardiac anomalies, thymic hypoplasia and predominating cellular immune deficiency, laryngeal developmental defects, midline anomalies with cl...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: f5e8b6b0-1e8b-56df-9051-86e8a7d0bc05
DOI: 10.20944/preprints202304.0652.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Cinical ApproachDOI 10.20944/preprints202304.0652.v1Read

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical ApproachSemantic proximity Read

The 22q11.2 deletion syndrome.Semantic proximity Read

Molecular genetics of 22q11.2 deletion syndromeSemantic proximity Read

Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).Semantic proximity Read

Review of the Pathophysiology and Clinical Manifestations of 22q11.2 Deletion and Duplication SyndromesSemantic proximity Read

Our evolving understanding of 22q.11 deletion syndrome.Semantic proximity Read

[Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum].Semantic proximity Read

[New interdisciplinary S3 guidelines on deletion syndrome 22q11.2, a genetic disease predisposing to neuropsychiatric morbidity].Semantic proximity Read

Defining the clinical spectrum of deletion 22q11.2.Semantic proximity Read

Deletion 22q11: Spectrum of Associated DisordersSemantic proximity Read

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of PhiladelphiaSemantic proximity Read

Clinical Manifestations of 22q11.2 Deletion SyndromeSemantic proximity Read