You are here

Article Text

Article menu
Download PDFPDF
PostScript
Correspondence
Variable phenotypic expression of COG6 mutations
  1. Fowzan S Alkuraya,
  2. Ranad Shaheen
  1. Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia
  1. Correspondence to Dr Fowzan S Alkuraya, Department of Genetics, King Faisal Specialist Hospital & Research Center, MBC-03 PO BOX 3354 , Riyadh 11211, Saudi Arabia; FAlKuraya{at}kfshrc.edu.sa

https://doi.org/10.1136/jmedgenet-2014-102388

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    The Authors' reply

    We would like to thank Haijes and colleagues for their interest1 in our finding2 of a founder COG6 mutation in multiple patients with a novel syndrome of intellectual disability and hypohidrosis—a phenotype that is significantly different from the one described by Lübbehusen and …

    View Full Text

    Footnotes

    • Competing interests None.

    • Provenance and peer review Not commissioned; internally peer reviewed.

    Linked Articles

    • PostScript
      Expanding the clinical phenotype of COG6 deficiency
      Hanneke Haijes Hubertus C M T Prinsen Christian Thiel Christian Koerner Nanda M Verhoeven-Duif Peter M van Hasselt
      Journal of Medical Genetics 2014; 51 425-425 Published Online First: 25 Mar 2014. doi: 10.1136/jmedgenet-2014-102329