phox2ba: The Potential Genetic Link behind the Overlap in the Symptomatology between CHARGE and Central Congenital Hypoventilation Syndromes

CHARGE syndrome typically results from mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7). CHD7 is involved in regulating neural crest development, which gives rise to tissues of the skull/face and the autonomic nervous system (ANS). Individuals with CHARGE syndrome ar...

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Detalles Bibliográficos
Autores principales: MacLean, Jessica E., Wertman, Jaime N., Prykhozhij, Sergey V., Chedrawe, Emily, Langley, Stewart, Steele, Shelby L., Ban, Kevin, Blake, Kim, Berman, Jason N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218506/
https://www.ncbi.nlm.nih.gov/pubmed/37239446
http://dx.doi.org/10.3390/genes14051086

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218506/
https://www.ncbi.nlm.nih.gov/pubmed/37239446
http://dx.doi.org/10.3390/genes14051086

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