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Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

Apert syndrome is a distinctive human malformation characterized by craniosynostosis and severe syndactyly of the hands and feet. It is caused by specific missense substitutions involving adjacent amino acids (Ser252Trp or Pro253Arg) in the linker between the second and third extracellular immunoglo...

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Bibliografiske detaljer
Main Authors: Slaney, S. F., Oldridge, M., Hurst, J. A., Moriss-Kay, G. M., Hall, C. M., Poole, M. D., Wilkie, A. O.
Format: Artigo
Sprog:Inglês
Udgivet: 1996
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914616/
https://ncbi.nlm.nih.gov/pubmed/8651276
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