CHARGE Syndrome from Pediatric Endocrinologist Perspective: Clinical Case
Background. CHARGE syndrome is an autosomal dominant disease with population frequency of 1 case per 8500–15,000 newborns. The cause of this disease is nucleotide changes in the CHD7 gene. The “major” criteria for the syndrome are eye coloboma, choanal atresia or stenosis, midline defects (cleft lip...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
"Paediatrician" Publishers LLC
2024-12-01
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| Series: | Вопросы современной педиатрии |
| Subjects: | |
| Online Access: | https://vsp.spr-journal.ru/jour/article/view/3660 |
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