Article info
Neurogenetics
Short report
Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome
- Correspondence to Professor Knut Brockmann, Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center, Göttingen, 37075, Germany; kbrock{at}med.uni-goettingen.de
Citation
Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome
Publication history
- Received May 4, 2018
- Revised August 2, 2018
- Accepted August 2, 2018
- First published August 17, 2018.
Online issue publication
March 22, 2019
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© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.