Clinical and genetic characteristics of the first Russian patient with a syndrome of craniofacial dysmorphia-deafness-anomalies of the upper limbs, caused by a mutation in the <i>PAX3</i> gene
Craniofacial dysmorphia-deafness-anomalies of the upper limbs is a rare autosomal dominant syndrome caused by variants in the PAX3 gene. In contrast to the two main nosological forms – Waardenburg syndrome types 1 and 3, caused by variants in this gene, the syndrome of craniofacial dysmorphias-deafn...
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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/559 |
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