Central nervous system malformations and deformations in FGFR2-related craniosynostosis

Central nervous system anomalies in Pfeiffer syndrome (PS) due to mutations in the FGFR2 gene are poorly understood, even though PS is often associated with serious cognitive impairment. The aim of this study is to describe the neuropathological phenotype in PS. We present four severe fetal cases of...

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Veröffentlicht in:	American journal of medical genetics. Part A 2012-11, Vol.158A (11), p.2797-2806
Hauptverfasser:	Khonsari, Roman Hossein, Delezoide, Anne-Lise, Kang, Wenfei, Hébert, Jean M., Bessières, Bettina, Bodiguel, Valérie, Collet, Catherine, Legeai-Mallet, Laurence, Sharpe, Paul T., Fallet-Bianco, Catherine
Format:	Artikel
Sprache:	eng
Schlagworte:	Aborted Fetus Adult and adolescent clinical studies Amygdala Animals Biological and medical sciences Brain - abnormalities Brain - metabolism Brain - pathology central nervous system Complex syndromes Craniosynostoses - diagnosis Craniosynostoses - genetics Craniosynostoses - pathology craniosynostosis Diseases of the osteoarticular system FGFR Genetic Association Studies Humans Intellectual deficiency intellectual disability Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical genetics Medical sciences Mice Mutation Pfeiffer syndrome Phenotype Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry Receptor, Fibroblast Growth Factor, Type 2 - genetics Receptor, Fibroblast Growth Factor, Type 2 - metabolism
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