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Craniofacial dysmorphology in Down syndrome is caused by increased dosage of Dyrk1a and at least three other genes
Down syndrome (DS), trisomy of human chromosome 21 (Hsa21), occurs in 1 in 800 live births and is the most common human aneuploidy. DS results in multiple phenotypes, including craniofacial dysmorphology, which is characterised by midfacial hypoplasia, brachycephaly and micrognathia. The genetic and...
Autores principales: | Redhead, Yushi, Gibbins, Dorota, Lana-Elola, Eva, Watson-Scales, Sheona, Dobson, Lisa, Krause, Matthias, Liu, Karen J., Fisher, Elizabeth M. C., Green, Jeremy B. A., Tybulewicz, Victor L. J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Company of Biologists Ltd
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10163349/ https://www.ncbi.nlm.nih.gov/pubmed/37102702 http://dx.doi.org/10.1242/dev.201077 |
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