Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay

BACKGROUND: FOXG1 gene mutations have been associated with the congenital variant of Rett syndrome (RTT) since the initial description of two patients in 2008. The on-going accumulation of clinical data suggests that the FOXG1-variant of RTT forms a distinguishable phenotype, consisting mainly of po...

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Detalles Bibliográficos
Autores principales: Fryssira, H., Tsoutsou, E., Psoni, S., Amenta, S., Liehr, T., Anastasakis, E., Skentou, Ch, Ntouflia, A., Papoulidis, I., Manolakos, E., Chaliasos, N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970234/
https://www.ncbi.nlm.nih.gov/pubmed/27486480
http://dx.doi.org/10.1186/s13039-016-0269-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970234/
https://www.ncbi.nlm.nih.gov/pubmed/27486480
http://dx.doi.org/10.1186/s13039-016-0269-1

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