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Correspondence
Expanding the clinical phenotype of COG6 deficiency
  1. Hanneke Haijes1,
  2. Hubertus C M T Prinsen2,
  3. Christian Thiel3,
  4. Christian Koerner3,
  5. Nanda M Verhoeven-Duif4,
  6. Peter M van Hasselt1
  1. 1Wilhelmina Children's Hospital, Metabolic diseases, Utrecht, Netherlands
  2. 2UMCU, Medical Genetics, Utrecht, Netherlands
  3. 3Zentrum fuer Kinder- und Jugendmedizin, Kinderheilkunde I, Heidelberg, Germany
  4. 4Department of Medical Genetics, UMC Utrecht, Section Metabolic diagnostics, Utrecht, Netherlands
  1. Correspondence to Dr Peter M van Hasselt, Wilhelmina Children's Hospital, Metabolic Diseases, Utrecht, Netherlands; p.vanhasselt{at}umcutrecht.nl

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Dear Editor,

With great interest we read the publication by Shaheen et al1 in which they describe a novel syndrome of hypohydrosis and intellectual disability that is linked to the presence of a homozygous intronic mutation in the COG6 gene. This mutation is associated with a deficiency of the COG6 protein, as evidenced by RT-PCR results. However, unlike the majority of known cases of COG deficiency, including COG6-congenital disorders of glycosylation (CDG) reports,2 ,3 they did not find the characteristic transferrin iso-electric focusing …

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