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Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder.
Absence or hypoplasia of the tibia has been reported to occur as an isolated hereditary malformation as well as a feature of several autosomal recessive and autosomal dominant syndromes. We report three sibs with absence or hypoplasia of the tibia in association with other malformations whose parent...
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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
1995
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1051745/ https://ncbi.nlm.nih.gov/pubmed/8592337 |
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