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[DOMINANT HEREDITARY ACROCEPHALOSYNDACTYLIA.]
[Article in German]
PMID: 14316612 [PubMed - indexed for MEDLINE]
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Cited by 8 PubMed Central articles
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ReviewPfeiffer syndrome.
Vogels A, Fryns JP.
Orphanet J Rare Dis. 2006 Jun 1; 1:19. Epub 2006 Jun 1.
[Orphanet J Rare Dis. 2006]
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Analysis of mutations in fibroblast growth factor (FGF) and a pathogenic mutation in FGF receptor (FGFR) provides direct evidence for the symmetric two-end model for FGFR dimerization.
Ibrahimi OA, Yeh BK, Eliseenkova AV, Zhang F, Olsen SK, Igarashi M, Aaronson SA, Linhardt RJ, Mohammadi M.
Mol Cell Biol. 2005 Jan; 25(2):671-84.
[Mol Cell Biol. 2005]
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A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, et al.
Am J Hum Genet. 1997 Mar; 60(3):555-64.
[Am J Hum Genet. 1997]
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