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FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms

Individuals with mutations in forkhead box G1 (FOXG1) belong to a distinct clinical entity, termed “FOXG1-related encephalopathy”. There are two clinical phenotypes/syndromes identified in FOXG1-related encephalopathy, duplications and deletions/intragenic mutations. In children with deletions or in...

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Detalles Bibliográficos
Autores principales: Wong, Lee-Chin, Singh, Shekhar, Wang, Hsin-Pei, Hsu, Chia-Jui, Hu, Su-Ching, Lee, Wang-Tso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6747066/
https://www.ncbi.nlm.nih.gov/pubmed/31454984
http://dx.doi.org/10.3390/ijms20174176