Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia

No abstract is available for this paper.

• Publication year

  1982

• Venue

  Clinical Genetics

• Publication date

  1982-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1111/j.1399-0004.1982.tb00957.xPMID 7094392
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  1970cited by this paper
• THE SYNDROME OF GOLDENHAR AFFECTING TWO SIBLINGS

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• COMBINATION OF GOLDENHAR'S SYNDROME WITH THE CRI‐DU‐CHAT SYNDROME

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• THE FIRST AND SECOND BRANCHIAL ARCH SYNDROME

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• A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report

  2022cites this paper
• Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome

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• Hemifacial microsomia is linked a rare homozygous variant V162I in FRK and validated in zebrafish.

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• AN INSIGHT INTO - HEMIFACIAL MICROSOMIA

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• Goldenhar syndrome: rare case reported from secondary health care facility in Himachal Pradesh

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• Abordagem odontológica de paciente com microssomia hemifacial – relato de caso

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• A novel nonsense substitution identified in the AMIGO2 gene in an Occulo-Auriculo-Vertebral spectrum patient.

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• Multidisciplinary Approach for Management of Dentofacial Deformity of a Patient with Goldenhar Syndrome

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• Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.

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• Hemifacial Microsomia : Need Of A Dentist Can ’ t Be Denied .

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• Goldenhar Syndrome with Tessier’s 7 Cleft: Report of a Case

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• Dental management of a child with Goldenhar syndrome

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• Thrombophilia gene mutations in oculoauriculovertebral spectrum.

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• Universidade de São Paulo Hospital de Reabilitação de Anomalias Craniofaciais

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• Craniofacial and dental characteristics of Goldenhar syndrome: a report of two cases.

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• Goldenhar syndrome with skin tags on the chest wall

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• Craniofacial Clefts and Craniofacial Syndromes

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• Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome

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• Craniofacial Clefts and Other Related Deformities

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• Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature

  2009influential citation
• Characterizing the oculoauriculofrontonasal syndrome

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• Familial oculoauriculovertebral sequence with lymphoma in one sibling

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• Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement

  2008cites this paper
• Síndrome de Goldenhar - Um alerta para o Otorrinolaringologista

  2007cites this paper
• Síndrome de Goldenhar: Reporte de un caso

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• Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (Hemifacial Microsomia).

  2007cites this paper
• A family with autosomal dominant oculo-auriculo-vertebral spectrum

  2007influential citation
• Síndrome de Goldenhar asociado a válvulas de la uretra posterior

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• Avaliação genética-clínica e audiológica de indivíduos com anomalias de 1º e 2º arcos branquiais associadas à anomalia radial

  2006cites this paper
• A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation

  2006cites this paper
• Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas

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• Monozygotic twins discordant for Goldenhar syndrome.

  2006cites this paper
• Goldenhar Syndrome with Various Clinical Manifestations

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• Goldenhar-Associated Conditions (hemifacial microsomia) and Congenital Deformities of the Spine

  2006cites this paper
• The genetic basis of hemifacial microsomia

  2006cites this paper
• Facio-auricular vertebral syndrome: A case report

  2005cites this paper
• Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia

  2005cites this paper
• Goldenhar's syndrome associated with multiple congenital abnormalities.

  2005cites this paper
• Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

  2005cites this paper
• Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement

  2004cites this paper
• Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum

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• Präaurikuläre Tumore bei einem Kleinkind

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• [Pre-auricular tumors in an infant. Differential diagnosis of neuroectodermal syndromes].

  2004cites this paper
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• Goldenhar syndrome and hereditary tyrosinemia type 1.

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• Goldenhar's Syndrome

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• Goldenhar's Syndrome

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• Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1

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• Goldenhar syndrome and hereditary tyrosinemia type 1.

  2002cites this paper
• Craniofacial, temporal bone, and audiologic abnormalities in the spectrum of hemifacial microsomia.

  2001cites this paper
• Prenatal diagnosis of facial clefting as part of the oculo‐auriculo‐vertebral spectrum

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• Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome

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• Vogt-Koyanagi-Harada syndrome in a pregnant patient treated with high-dose systemic corticosteroids.

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• Hemifacial microsomia and treatment options for auricular replacement: A review of the literature.

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• The pediatrician's role in caring for patients with congenital microtia and atresia.

  1999cites this paper
• A family with dominant oculoauriculovertebral spectrum.

  1998cites this paper
• Goldenhar syndrome associated with various cardiovascular malformations.

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• Goldenhar syndrome among infants born in military hospitals to Gulf War veterans.

  1997cites this paper
• Goldenhar, Möbius and hypoglossia-hypodactyly anomalies in a patient: Syndrome or association?

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• Abnormalities of the spine in Goldenhar's syndrome.

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  1989cites this paper
• Oculoauriculovertebral anomaly: variability and causal heterogeneity.

  1988cites this paper
• Discordance of signs in monozygotic twins concordant for the Goldenhar anomaly.

  1988cites this paper
• Hemifacial deficiency induced by a shift in dominance of the mouse mutation far: a possible genetic model for hemifacial microsomia.

  1987cites this paper
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• The Application of Clinical Genetics Dovepress

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