<i>phox2ba:</i> 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 (<i>CHD7</i>). 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...

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Bibliographic Details
Main Authors: Jessica E. MacLean, Jaime N. Wertman, Sergey V. Prykhozhij, Emily Chedrawe, Stewart Langley, Shelby L. Steele, Kevin Ban, Kim Blake, Jason N. Berman
Format: Article
Language:English
Published: MDPI AG 2023-05-01
Series:Genes
Subjects:
Online Access:https://www.mdpi.com/2073-4425/14/5/1086