Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation
Clinical and genetic characteristics of a patient with Lamb–Shaffer syndrome due to the newly discovered heterozygous missense mutation p.1868A>C in the 14 exon of the SOX5 gene are presented in the next generation sequencing of exom. It is shown that, in contrast to the previously described...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2018-04-01
|
| Series: | Nervno-Myšečnye Bolezni |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/261 |