Genetic testing for Senior-Loken syndrome
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Senior- Loken syndrome (SLSN). SLSN is inherited in an autosomal recessive manner, has a prevalence of one in a million, and is caused by variations in CEP164, CEP290, INVS,...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2017-10-01
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| Series: | The EuroBiotech Journal |
| Online Access: | https://doi.org/10.24190/ISSN2564-615X/2017/S1.31 |