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Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

Authors

  1. 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
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Citation

Pauli S, Altmüller J, Schröder S, et al
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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