Literature DB >> 3144985

Oculoauriculovertebral anomaly: variability and causal heterogeneity.

B R Rollnick1.   

Abstract

The oculoauriculovertebral anomaly is a complex developmental field defect. There is lack of agreement on the minimal diagnostic criteria and the phenotypic spectrum. Causal heterogeneity has been described. This report reviews aspects of phenotypic variability and causal heterogeneity and discusses current understanding of the defect.

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Mesh：

Year:  1988        PMID： 3144985     DOI： 10.1002/ajmg.1320310510

Source DB:  PubMed          Journal:  Am J Med Genet Suppl        ISSN： 1040-3787


  5 in total

1.  Hemifacial microsomia: from gestation to childhood.

Authors:  Martha M Werler; Jacqueline R Starr; Yona K Cloonan; Matthew L Speltz
Journal:  J Craniofac Surg       Date:  2009-03       Impact factor: 1.046

Review 2.  Oculoauriculovertebral spectrum and cerebral anomalies.

Authors:  C T Schrander-Stumpel; C E de Die-Smulders; R C Hennekam; J P Fryns; P X Bouckaert; O F Brouwer; J J da Costa; E J Lommen; P D Maaswinkel-Mooy
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

3.  'Inside-out', back-to-front: a model for clinical population genetic screening.

Authors:  D Shickle; I Harvey
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318

4.  Three-dimensional characterization of mandibular asymmetry in craniofacial microsomia.

Authors:  Yun-Fang Chen; Frank Baan; Robin Bruggink; Ewald Bronkhorst; Yu-Fang Liao; Edwin Ongkosuwito
Journal:  Clin Oral Investig       Date:  2020-05-07       Impact factor: 3.573

5.  In vivo confocal microscopy in goldenhar syndrome: a case report.

Authors:  Giacinto Triolo; Giulio Ferrari; Claudio Doglioni; Paolo Rama
Journal:  BMC Ophthalmol       Date:  2013-10-16       Impact factor: 2.209
  5 in total

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