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Orofaciodigital syndrome type III in two sibs.
A brother and sister with mental retardation, malformations of the cerebellar vermis, characteristic 'metronome' eye movements, lingual hamartomas, and postaxial polydactyly are described. The clinical overlap with the OFD group of syndromes, in particular OFD III and OFD VI, and Joubert&#...
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| Publicado no: | J Med Genet |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
1993
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016572/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8230165/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.10.870 |
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