Clinical utility gene card for: Johanson-Blizzard syndrome

Eur J Hum Genet. 2014 Jan;22(1). doi: 10.1038/ejhg.2013.65. Epub 2013 May 8.

Authors

Maja Sukalo¹, Julia Mayerle², Martin Zenker¹

Affiliations

¹ Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
² Department of Medicine A, University Medicine, Ernst-Moritz-Arndt-University Greifswald, Greifswald, Germany.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Anus, Imperforate / diagnosis
Anus, Imperforate / genetics*
Anus, Imperforate / therapy
Ectodermal Dysplasia / diagnosis
Ectodermal Dysplasia / genetics*
Ectodermal Dysplasia / therapy
Growth Disorders / diagnosis
Growth Disorders / genetics*
Growth Disorders / therapy
Hearing Loss, Sensorineural / diagnosis
Hearing Loss, Sensorineural / genetics*
Hearing Loss, Sensorineural / therapy
Humans
Hypothyroidism / diagnosis
Hypothyroidism / genetics*
Hypothyroidism / therapy
Intellectual Disability / diagnosis
Intellectual Disability / genetics*
Intellectual Disability / therapy
Mutation
Nose / abnormalities*
Pancreatic Diseases / diagnosis
Pancreatic Diseases / genetics*
Pancreatic Diseases / therapy
Ubiquitin-Protein Ligases / genetics*

Substances

UBR1 protein, human
Ubiquitin-Protein Ligases

Supplementary concepts

Johanson Blizzard syndrome