Classic Cornelia de Lange syndrome with variant of unknown significance detected in NIPBL gene mutation: a case report
Abstract Background Cornelia de Lange syndrome is a relatively uncommon disorder associated with multiple congenital anomalies/mental retardation of unknown etiology with its incidence varying from 1:10,000 to 1:50,000 live births in different population groups without any known racial predilections...
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| Principais autores: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
SpringerOpen
2021-04-01
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| coleção: | Egyptian Journal of Medical Human Genetics |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s43042-021-00142-3 |
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