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Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones
Two male cousins are reported with arachnodactyly, selective aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones, and a distant female relative with similar abnormalities. The syndrome is thought to be previously undescribed, though it has resemblances to Mar...
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| Autores principales: | , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
1974
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1083643/ https://ncbi.nlm.nih.gov/pubmed/4448994 |
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