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...

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Detalles Bibliográficos
Autores principales: Craig, Connor P., Calamaro, Emily, Fong, Chin-To, Iqbal, Anwar M., Paciorkowski, Alexander R., Zhang, Bin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
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

Internet

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

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