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Joubert syndrome: Report of a neonatal case
Joubert syndrome is an autosomal recessive disorder that is characterized by a variable combination of central nervous system, respiratory and eye anomalies. It is a syndrome with a variable phenotype: partial or complete absence of the cerebellar vermis is seen in all patients, while other cardinal...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Pulsus Group Inc
2003
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2791553/ https://ncbi.nlm.nih.gov/pubmed/20019935 |
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