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

Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene.

American journal of medical genetics. Part A - 1 May 2018

Patil Siddaramappa Jagdish, Das Bhowmik Aneek, Bhat Venkatraman, Satidevi Vineeth Venugopal, Vasudevamurthy Rashmi, Dalal Ashwin

Abstract excerpt

Otofaciocervical syndrome (OTFCS) is described as a single gene disorder of both autosomal dominant and autosomal recessive inheritance. The major clinical features of OTFCS include ear malformations (external/middle/inner ear), facial dysmorphism, shoulder girdle abnormalities, vertebral anomalies, and mild intellectual disability. The autosomal recessive form of OTFCS syndrome (OTFCS2) has been recently...

Read the complete abstract on PubMed

Topics

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

Share to Bone and Bones
Share to Branchio-Oto-Renal Syndrome

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

Share to Exome Sequencing

Share to Facies

Share to Genes, Recessive

Share to Mutagenesis, Insertional

Share to Paired Box Transcription Factors

Share to Radiography

Source

Identifiers

PMID: 29681087
DOI: 10.1002/ajmg.a.38659

Genes

PAX1

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

Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene.PMID 29681087Read ↗

A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency.Semantic proximity Read ↗

A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.Semantic proximity Read ↗

A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.Semantic proximity Read ↗

PITX2 and FOXC1 spectrum of mutations in ocular syndromes.Semantic proximity Read ↗

Otofaciocervical Syndrome and Its Overlap with Branchio‐Otorenal Spectrum: An Integrated Literature Analysis of EYA1‐Related Disorders, Including a Novel Case with an 8q13.2q13.3 DeletionSemantic proximity Read ↗

Noonan syndrome-like phenotype associated with an ERF frameshift variant.Semantic proximity Read ↗

Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.Semantic proximity Read ↗

A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) geneSemantic proximity Read ↗

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

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.Semantic proximity Read ↗

Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.Semantic proximity Read ↗

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.Semantic proximity Read ↗

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