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Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

A phenotypic and genotypic survey was conducted on 36 Apert syndrome patients. In all but one patient, an FGFR2 mutation, either S252W or P253R, was found in exon IIIa (exon U or 7). The frequency was 71% and 26%, for the mutations S252W and P253R, respectively. These mutations occur in the linker r...

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Detalhes bibliográficos
Main Authors: Park, W J, Theda, C, Maestri, N E, Meyers, G A, Fryburg, J S, Dufresne, C, Cohen, M M, Jabs, E W
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801532/
https://ncbi.nlm.nih.gov/pubmed/7668257
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