Apert's syndrome: Study by whole exome sequencing
In the present study we attempted a parent–child trio, whole exome sequencing (WES) approach to study Apert's syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System that revealed the presence of previously reported P253R mutation in FGFR...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2018-06-01
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| Series: | Genes and Diseases |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352304217300478 |