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Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
BACKGROUND: Loss of function variants and whole gene deletions of ZNF462 has been associated with a novel phenotype of developmental delay/intellectual disability and distinctive facial features. Over two dozen cases have been reported to date and the condition is now known as Weiss‐Kruszka syndrome...
| 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/PMC10009906/ https://www.ncbi.nlm.nih.gov/pubmed/36461789 http://dx.doi.org/10.1002/mgg3.2116 |