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Síndrome de rotura de Varsovia: una causa de microcefalia congénita y sordera neurosensorial
INTRODUCTION. Warsaw breakage syndrome is a very rare genetic disorder due to biallelic pathogenic variants in DDX11 gene, with a role in the sister chromatid cohesion process, and classified in the cohesinophaties group. It is characterized by the clinical triad of growth restriction, microcephaly...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Viguera Editores (Evidenze Group)
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10364041/ https://www.ncbi.nlm.nih.gov/pubmed/36703504 http://dx.doi.org/10.33588/rn.7603.2022165 |