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Kids who don't cry: New genetic disorder discovered - CNN.com - 0 views

www.cnn.com/...ngly1-genetic-disorder

CNN sequencing blog rare genetic disorder NGYL1 article

shared by Lottie Peppers on 11 Feb 15 - No Cached

Lottie Peppers on 11 Feb 15

That's why a paper published Thursday in the journal Genetics in Medicine is so remarkable. The paper identifies NGLY1 deficiency as an inherited genetic disorder, caused by mutations in the NGLY1 gene. The researchers have confirmed eight patients with these mutations who share several symptoms, including developmental delays, abnormal tear production and liver disease.

<div class="cArrow"> </div><div class="cContentInner"> That's why a paper published Thursday in the journal Genetics in Medicine is so remarkable. The paper identifies NGLY1 deficiency as an inherited genetic disorder, caused by mutations in the NGLY1 gene. The researchers have confirmed eight patients with these mutations who share several symptoms, including developmental delays, abnormal tear production and liver disease.</div>

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