Two novel CHD7 variants in patients with typical and mild features of CHARGE syndrome co-occurring with esophageal atresia
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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-12-01
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| Series: | Journal of Pediatric Surgery Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213576622003050 |