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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:IdLiteratureReference:2029812
_displayNameMutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome
_timestamp2012-01-04 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
journalEur J Hum Genet
pages289-98
pubMedIdentifier16418739
titleMutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome
volume14
year2006
(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)