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Prenatal and Neonatal MR Imaging Findings in Oral-Facial-Digital Syndrome Type VI

A. Poretti, U. Brehmer, I. Scheer, V. Bernet and E. Boltshauser
American Journal of Neuroradiology June 2008, 29 (6) 1090-1091; DOI: https://doi.org/10.3174/ajnr.A1038
A. Poretti
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I. Scheer
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V. Bernet
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Article Information

vol. 29 no. 6 1090-1091
DOI 
https://doi.org/10.3174/ajnr.A1038
PubMed 
18356465

Published By 
American Journal of Neuroradiology
Print ISSN 
0195-6108
Online ISSN 
1936-959X
History 
  • Received December 14, 2007
  • Accepted after revision December 30, 2007
  • Published online June 10, 2008.

Copyright & Usage 
Copyright © American Society of Neuroradiology

Author Information

  1. A. Porettia,
  2. U. Brehmerb,
  3. I. Scheerb,
  4. V. Bernetc and
  5. E. Boltshausera
  1. aDepartment of Pediatric Neurology, University Children's Hospital of Zurich, Zurich, Switzerland
  2. bDiagnostic Imaging, University Children's Hospital of Zurich, Zurich, Switzerland
  3. cDepartment of Neonatology and Intensive Care, University Children's Hospital of Zurich, Zurich, Switzerland
  1. Please address correspondence to Eugen Boltshauser, Department of Pediatric Neurology, University Children's Hospital, Steinwiesstr 75, 8032 Zurich, Switzerland; e-mail: Eugen.Boltshauser{at}kispi.uzh.ch
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American Journal of Neuroradiology
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Cite this article
A. Poretti, U. Brehmer, I. Scheer, V. Bernet, E. Boltshauser
Prenatal and Neonatal MR Imaging Findings in Oral-Facial-Digital Syndrome Type VI
American Journal of Neuroradiology Jun 2008, 29 (6) 1090-1091; DOI: 10.3174/ajnr.A1038

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Prenatal and Neonatal MR Imaging Findings in Oral-Facial-Digital Syndrome Type VI
A. Poretti, U. Brehmer, I. Scheer, V. Bernet, E. Boltshauser
American Journal of Neuroradiology Jun 2008, 29 (6) 1090-1091; DOI: 10.3174/ajnr.A1038
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  • Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause
  • Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes
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  • Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients
  • Interpeduncular Heterotopia in Joubert Syndrome: A Previously Undescribed MR Finding
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    Journal of Medical Genetics 2017 54 6
  • Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia
    Gordana Juric-Sekhar, Jonathan Adkins, Dan Doherty, Robert F. Hevner
    Acta Neuropathologica 2012 123 5
  • C5orf42 is the major gene responsible for OFD syndrome type VI
    Estelle Lopez, Christel Thauvin-Robinet, Bruno Reversade, Nadia El Khartoufi, Louise Devisme, Muriel Holder, Hélène Ansart-Franquet, Magali Avila, Didier Lacombe, Pascale Kleinfinger, Irahara Kaori, Jun-Ichi Takanashi, Martine Le Merrer, Jelena Martinovic, Catherine Noël, Mohammad Shboul, Lena Ho, Yeliz Güven, Ferechté Razavi, Lydie Burglen, Nadège Gigot, Véronique Darmency-Stamboul, Julien Thevenon, Bernard Aral, Hülya Kayserili, Frédéric Huet, Stanislas Lyonnet, Cédric Le Caignec, Brunella Franco, Jean-Baptiste Rivière, Laurence Faivre, Tania Attié-Bitach
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  • Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish
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    Orphanet Journal of Rare Diseases 2012 7 1
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