Article

Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum

2024-02-07

Abstract excerpt

<h4>Background</h4> Oculoauriculovertebral Spectrum (OAVS) encompasses abnormalities on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular and vertebral anomalies. We present genetic findings on a three-generation family affected with macrostomia, preauricular tags and uni- or bilateral ptosis following an autosomal dominant...

Topics

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

Identifiers and source

Literature Corpus work: f865fedf-8ff5-5447-90c4-62c562cfe1bc
DOI: 10.1101/2024.02.07.24301824

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrumDOI 10.1101/2024.02.07.24301824Read

Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.Semantic proximity Read

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

Refining the genetic landscape of anophthalmia and microphthalmia: a comprehensive framework with deep learning and updated gene panelsSemantic proximity Read

The genetic landscape of hypospadias: clinical insights into inherited and de novo risk factorsSemantic proximity Read

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disordersSemantic proximity Read

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

Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes.Semantic proximity Read

Clinical and cytogenomic findings in OAV spectrum.Semantic proximity Read

Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update.Semantic proximity Read

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

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.Semantic proximity Read

Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort.Semantic proximity Read