Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS)
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.959
Abstract: Oculo‐auriculo‐vertebral spectrum (OAVS) is a craniofacial developmental disorder that affects structures derived from the first and second pharyngeal arches. The clinically heterogeneous phenotype involves mandibular, oral, and ear development anomalies. Etiology is complex and poorly… read more here.
Keywords: auriculo vertebral; single nucleotide; vertebral spectrum; spectrum oavs ... See more keywords
Ultrasound diagnosis of oculo‐auriculo‐vertebral spectrum in a mid‐trimester foetus
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DOI: 10.1002/pd.5936
Abstract: A 27‐year‐old woman presented for an anomaly scan at 24 weeks' gestation. There was no family history. Examination of the amniotic fluid revealed a normal female karyotype. The two dimensional (2D) sonography revealed an asymmetrical… read more here.
Keywords: foetus; figure; auriculo vertebral; vertebral spectrum ... See more keywords
Oculo auriculo vertebral spectrum and CHARGE association
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DOI: 10.1136/bcr-2022-252552
Abstract: A boy in his early childhood was brought for a comprehensive eye examination as advised by a paediatrician. The child had plagiocephaly, absent left ear (anotia), facial asymmetry, deviation of mouth to the left side,… read more here.
Keywords: auriculo vertebral; spectrum charge; eye; charge association ... See more keywords
The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes
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DOI: 10.3390/life12111723
Abstract: The clinical diagnosis of oculo-auriculo-vertebral spectrum (OAVS) is established when microtia is present in association with hemifacial hypoplasia (HH) and/or ocular, vertebral, and/or renal malformations. Genetic and non-genetic factors have been associated with microtia/OAVS. Although… read more here.
Keywords: interaction; auriculo vertebral; etiology; oculo auriculo ... See more keywords