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

Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review.

European journal of medical genetics - 1 May 2018

Spineli-Silva Samira, Bispo Luciana M, Gil-da-Silva-Lopes Vera L, Vieira Társis P

Abstract excerpt

Craniofacial Microsomia (CFM) also known as Oculo-auriculo-vertebral Spectrum (OAVS) or Goldenhar Syndrome, presents wide phenotypic and etiological heterogeneity. It affects mainly the structures originated from the first and second pharyngeal arches. In addition, other major anomalies may also be found, including congenital heart diseases. In this study, we report a patient with distal deletion in the 22q11.2...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to MAPK1 gene

Share to Genetic Loci

Share to Genotype

Share to Goldenhar Syndrome

Share to Phenotype

Source

Identifiers

PMID: 29288792
DOI: 10.1016/j.ejmg.2017.12.013

Genes

HIC2
MAPK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review.PMID 29288792Read ↗

Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review.Semantic proximity Read ↗

A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum.Semantic proximity Read ↗

Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype.Semantic proximity Read ↗

Two neighboring microdeletions of 5q13.2 in a child with oculo-auriculo-vertebral spectrum.Semantic proximity Read ↗

31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic findings.Semantic proximity Read ↗

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex diseaseSemantic proximity Read ↗

Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.Semantic proximity Read ↗

Oculo-auriculo-vertebral (Goldenhar) spectrum associated with pericentric inversion 9: coincidental findings or etiologic factor?Semantic proximity Read ↗

Otolaryngological features in a cohort of patients affected with 22q11.2 deletion syndrome: A monocentric survey.Semantic proximity Read ↗

Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum.Semantic proximity Read ↗

Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).Semantic proximity Read ↗

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.Semantic proximity Read ↗

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