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...
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| Main Authors: | , , , , |
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| Format: | Book |
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Elsevier,
2022-12-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |