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A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype
BACKGROUND: Deletions covering the entire or partial JARID2 gene as well as pathogenic single nucleotide variants leading to haploinsufficiency of JARID2 have recently been shown to cause a clinically distinct neurodevelopmental syndrome. Here, we present a previously undescribed partial de novo dup...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9651605/ https://www.ncbi.nlm.nih.gov/pubmed/35979655 http://dx.doi.org/10.1002/mgg3.2037 |