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A male with type I orofaciodigital syndrome.
We describe a three generation family with three females showing minor features of orofaciodigital syndrome type I and a severely affected male in the third generation. In addition to the classical features of OFD I, the male had bilateral duplication of the halluces, a feature diagnostic of OFD II,...
Gespeichert in:
| Veröffentlicht in: | J Med Genet |
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| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMJ Publishing Group
1991
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017056/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1941964/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.10.691 |
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