109 citations
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October 2007 in “American Journal of Human Genetics” Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
37 citations
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June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
This document discusses a case of X-linked hypohidrotic ectodermal dysplasia confirmed through genetic sequencing, where the patient did not exhibit the typical hair growth abnormalities associated with the disorder. The authors emphasize that many cases of ectodermal dysplasia are underdiagnosed or misdiagnosed due to mild or atypical presentations. With the advent of gene therapies, the authors stress the importance of recognizing the disorder in undiagnosed patients to improve management and inform future life decisions.
35 citations
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April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
15 citations
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May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.