Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients
- 1 September 2015
- journal article
- research article
- Published by Elsevier in European Journal of Medical Genetics
- Vol. 58 (9) , 455-465
Abstract
No abstract availableKeywords
Funding Information
- The Newlife Foundation (13-14/14)
- The Rosetrees Trust
- The Manchester NIHR Biomedical Research Centre
- Manchester Academic Health Sciences Centre
- Healing Foundation
This publication has 43 references indexed in Scilit:
- Copy-Number Variations, Noncoding Sequences, and Human PhenotypesAnnual Review of Genomics and Human Genetics, 2011
- Phenotypic variability of distal 22q11.2 copy number abnormalitiesAmerican Journal of Medical Genetics Part A, 2011
- Array‐CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrumAmerican Journal of Medical Genetics Part A, 2010
- Three patients with oculo‐auriculo‐vertebral spectrum and microdeletion 22q11.2American Journal of Medical Genetics Part A, 2009
- Microduplication 22q11.2: A new chromosomal syndromeEuropean Journal of Medical Genetics, 2009
- Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1American Journal of Medical Genetics Part A, 2009
- Array‐CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2‐p31.1 deletion in a patient with features overlapping the Goldenhar syndromeAmerican Journal of Medical Genetics Part A, 2008
- A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: Is this a candidate region for the syndrome?American Journal of Medical Genetics Part A, 2008
- Goldenhar′s sequence with associated juvenile glaucoma in Turner′s syndromeIndian Journal Of Ophthalmology, 2005
- Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndromeHuman Genetics, 2001