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Transcription factors / Genetics / Waardenburg syndrome / Rare diseases / PAX3 / Pax genes / Mutation / Tietz syndrome / Haploinsufficiency / Biology / Health / Syndromes


Downloaded from http://bmjopen.bmj.com/ on February 6, [removed]Published by group.bmj.com Open Access Research
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Document Date: 2015-02-06 05:32:14


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City

Ulm / Dublin / Seattle / Kippenheim / Frankfurt am Main / Muenster / Mainz / Berlin / Munich / Bonn / Göttingen / /

Company

Creative Commons / /

Country

Germany / South Africa / Ireland / /

Currency

pence / /

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Facility

Martha-Maria Hospital / University of Cologne / Biomedical Center / University Medicine / Medical Center Lichtenrade / University of Ulm / Children’s Hospital / University of Washington / Institute of Human Genetics / University Medical Center / Justus-Liebig University / /

IndustryTerm

translation initiation site / online article / /

MedicalCondition

II Waardenburg syndrome / INTRODUCTION Waardenburg syndrome / level Type Transmission mode Dystopia Heterochromia canthorum iridis Hearing loss / Tietz W. A syndrome / SOX10 gene locus cause Waardenburg syndrome / Tietz syndrome / congenital hearing loss / human PAX3 gene cause Klein-Waardenburg syndrome / Waardenburg-Shah syndrome / albinism / generalised hypopigmentation / true syndrome / hypopigmentation/deafness / typical Tietz syndrome / MS / hearing loss / skin hyperpigmentation / deaf-mutism / Jenkins T. Waardenburg syndrome / Waardenburg-Hirschsprung disease / partial hypopigmentation / auditorypigmentary syndrome / specific genetic disorder / albinism-deafness syndrome / Waardenburg syndrome / hypopigmentation / bilateral hearing loss / Hirschsprung disease / congenital sensorineural hearing loss / Klein-Waardenburg syndrome / Shah-Waardenburg syndrome / syndrome / /

MedicalTreatment

counselling / /

Organization

Institute of Human Genetics / University of Washington / Justus-Liebig University / University Medical Center / Martha-Maria Hospital / Biomedical Center / University of Cologne / Cologne / Lady’s Children’s Hospital / National Centre for Medical Genetics / Department of Pediatrics and Pediatric Neurology / Center for Human Genetics / University of Ulm / /

Person

Stefanie Vogt / Axel Bohring / Christian Kubisch / Birgit Zirn / Gertrud Strobl-Wildemann / Marie Greally / Markus Suckfüll / Gabriele Wildhardt / Juliane Wechtenbruch / Oliver Bartsch / Daniela Steinberger / /

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Position

Watkin PM / Author / Kelley PM / /

Technology

genomics / ATG / genotype / /

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http /

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