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Pfeiffer syndrome
Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and...
| Autores principales: | , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2006
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1482682/ https://www.ncbi.nlm.nih.gov/pubmed/16740155 http://dx.doi.org/10.1186/1750-1172-1-19 |