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Campomelic dysplasia: evidence of autosomal dominant inheritance.
We present a mother and daughter with clinical and radiological findings consistent with the diagnosis of campomelic dysplasia. Milder tibial bowing and significant shortening of the phalangeal bones of both hands and feet may distinguish this from the classical autosomal recessive form of the disea...
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| Veröffentlicht in: | J Med Genet |
|---|---|
| Hauptverfasser: | , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMJ Publishing Group
1993
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016499/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8411055/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.8.683 |
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