Two novel CHD7 variants in patients with typical and mild features of CHARGE syndrome co-occurring with esophageal atresia

• Main Authors: Devon Michael Evanovich (Author), Anne O'Donnell-Luria (Author), Benjamin Zendejas (Author), Dusica Bajic (Author), Jue Teresa Wang (Author)
• פורמט: ספר
• יצא לאור: Elsevier, 2022-12-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

CHARGE syndrome (Coloboma, Heart defect, Atresia of the choanae, growth Retardation, Genital abnormalities, Ear anomalies/deafness) is a rare genetic autosomal dominant disease with a prevalence of 1/10,000 live births. It is associated with pathogenic variants in the chromodomain-helicase-DNA-bindi...