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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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| Vydáno v: | Sci Rep |
|---|---|
| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Nature Publishing Group UK
2018
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| 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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