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Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review
BACKGROUND: The FOXG1 gene plays a vital role in mammalian brain differentiation and development. Intra- and intergenic mutations resulting in loss of function or altered expression of the FOXG1 gene cause FOXG1 syndrome. The hallmarks of this syndrome are severe developmental delay with absent verb...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7905679/ https://www.ncbi.nlm.nih.gov/pubmed/33632291 http://dx.doi.org/10.1186/s13039-020-00506-1 |