European Journal of Human Genetics - Clinical utility gene card for: Johanson-Blizzard syndrome

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European Journal of Human Genetics - Clinical utility gene card for: Johanson-Blizzard syndrome

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 8 May 2013; doi: 10.1038/ejhg.2013.65

Clinical utility gene card for: Johanson–Blizzard syndrome

Maja Sukalo¹, Julia Mayerle² and Martin Zenker¹

1. ¹Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany


2. ²Department of Medicine A, University Medicine, Ernst-Moritz-Arndt-University Greifswald, Greifswald, Germany

Correspondence: Professor M Zenker, Institute of Human Genetics, University Hospital Magdeburg, Leipziger Str. 44, Magdeburg 39120, Germany. Tel: +49 391 6715062; Fax: +49 391 6715066; E-mail: martin.zenker@med.ovgu.de

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1. DISEASE CHARACTERISTICS

1.1 Name of the disease (synonyms)

Johanson–Blizzard syndrome (JBS), Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness.

1.2 OMIM# of the disease

243800.

1.3 Name of the analysed genes or DNA/chromosome segments

UBR1.

1.4 OMIM# of the gene(s)

605981.