Clinical and genetic characteristics of type 7 distal arthrogryposis caused by a pathogenic variant in the <i>MYH8</i> gene
Distal arthrogryposis is a group of genetically heterogeneous congenital diseases characterized by non-progressive contractures predominantly distal joints of the upper and lower extremities. 11 genes have been identified as pathogenic variants causing the occurrence of autosomal dominant and autoso...
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Main Authors: | , , , , , , |
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Format: | Article |
Language: | Russian |
Published: |
ABV-press
2023-10-01
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Series: | Нервно-мышечные болезни |
Subjects: | |
Online Access: | https://nmb.abvpress.ru/jour/article/view/561 |
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