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

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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Bibliographic Details
Main Authors: T. V. Markova, V. V. Mavlyukeeva, B. G. Ginzburg, O. A. Shchagina, S. S. Nikitin, E. L. Dadali
Format: Article
Language:Russian
Published: ABV-press 2023-10-01
Series:Нервно-мышечные болезни
Subjects:
syndrome of craniofacial dysmorphias-deafness-anomalies of the upper extremities
<i>pax3</i> gene
Online Access:https://nmb.abvpress.ru/jour/article/view/559
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