Clinical and genetic characteristics of the syndrome of contractures of the limbs and face, hypothony and psychomotor retardation (OMIM: 616 266), caused by mutations in the NALCN gene
A description of the clinical and genetic characteristics of the syndrome of congenital contractures of the limbs and face in combination with muscular hypotonia and psychomotor retardation of 2 patients from Russia is presented. As a result of full-exome DNA sequencing, 2 heterozygous missense muta...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2019-04-01
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| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/317 |