Identification of FOXG1 mutations in infantile hypotonia and postnatal microcephaly

FOXG1, located at chromosome 14q12, is critical for brain development, and patients with FOXG1 mutation exhibit developmental encephalopathy with high phenotypic variability, known as FOXG1 syndrome. Here, we report 3 cases of FOXG1 syndrome that presented with infantile hypotonia and microcephaly....

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Detalles Bibliográficos
Autores principales: Jang, Han Na, Kim, Taeho, Jung, Ah Young, Lee, Beom Hee, Yum, Mi-Sun, Ko, Tae-Sung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8615421/
https://www.ncbi.nlm.nih.gov/pubmed/34964776
http://dx.doi.org/10.1097/MD.0000000000027949

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8615421/
https://www.ncbi.nlm.nih.gov/pubmed/34964776
http://dx.doi.org/10.1097/MD.0000000000027949

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