Statistics from Altmetric.com
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 …
Contributors: HH, HCMTP and PMvH: wrote the letter. CT, CK and NMV-D critically reviewed the letter and provided comments.
Competing interests None.
Provenance and peer review Not commissioned; internally peer reviewed.
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.