Clinical and genetic characteristics of distal arthrogryposis caused by mutations in the PIEZO2 gene
Mutations in the PIEZO2 gene, which is involved in the formation of the mechanosensitive cation channel Piezo2, can cause distal arthrogryposis type 3 (Gordon’s syndrome), type 5, and Marden–Walker syndrome. Clinical and genetic characteristics of two patients with distal arthrogryposis with autosom...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2021-09-01
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| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/449 |
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