Smith–Magenis syndrome – a case study
Smith–Magenis syndrome is a syndrome of congenital malformations, classified as rare diseases. It appears in one child in 15,000–25,000 births. The disorder is caused by deletion of chromosome 17p11.2 or mutations in the RAI gene. The image of the disfunction is heterogeneous and includes numerous n...
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Medical Communications Sp. z o.o.
2018-12-01
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| coleção: | Aktualności Neurologiczne |
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| Acesso em linha: | http://www.neurologia.com.pl/index.php/issues/2018-vol-18-no-4/smith-magenis-syndrome-a-case-study?aid=1021 |
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