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A novel small deletion in the NHS gene associated with Nance-Horan syndrome

Nance-Horan syndrome is a rare X-linked recessive inherited disease with clinical features including severe bilateral congenital cataracts, characteristic facial and dental abnormalities. Data from Chinese Nance-Horan syndrome patients are limited. We assessed the clinical manifestations of a Chines...

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Podrobná bibliografie
Vydáno v:Sci Rep
Hlavní autoři: Li, Huajin, Yang, Lizhu, Sun, Zixi, Yuan, Zhisheng, Wu, Shijing, Sui, Ruifang
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2018
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5799206/
https://ncbi.nlm.nih.gov/pubmed/29402928
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-20787-2
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