A novel CHD7 mutation in a Chinese patient with CHARGE syndrome
In Genetics Out-patient Department of Shanghai Children's Medical Center, we consulted a 3-year-old boy with multiple anomaly syndrome (congenital heart disease, cryptorchidism, congenital deafness, mental retardation, exophthalmos, laryngeal cartilage dysplasia and high arched palate). We rule...
| Main Authors: | , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Elsevier
2014
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287889/ |