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Details on Person Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome
| Class:Id | LiteratureReference:2029812 |
|---|---|
| _displayName | Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome |
| _timestamp | 2012-01-04 22:04:13 |
| author | [Person:2029767] Lajeunie, E [Person:2029759] Heuertz, S [Person:2029747] El Ghouzzi, V [Person:2029772] Martinovic, J [Person:2029783] Renier, D [Person:2029770] Le Merrer, M [Person:1629815] Bonaventure, J |
| created | [InstanceEdit:2029813] Rothfels, K, 2012-01-04 |
| journal | Eur J Hum Genet |
| pages | 289-98 |
| pubMedIdentifier | 16418739 |
| title | Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome |
| volume | 14 |
| year | 2006 |
| (literatureReference) | [EntityWithAccessionedSequence:2029862] p-8Y-FGFR2c W290G [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:2029883] FGFR2c W290G [plasma membrane] [Homo sapiens] |
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No pathways have been reviewed or authored by Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome (2029812)
