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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

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Dear Editor,

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 colleagues. …

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  • PostScript
    Hanneke Haijes Hubertus C M T Prinsen Christian Thiel Christian Koerner Nanda M Verhoeven-Duif Peter M van Hasselt