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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Vogels, Annick, Fryns, Jean-Pierre
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2006
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1482682/
https://ncbi.nlm.nih.gov/pubmed/16740155
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-1-19
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