Central nervous system malformations and deformations in FGFR2-related craniosynostosis

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 11, 2012, Pages 2797-2806

  Khonsari, Roman Hossein ^a   Delezoide, Anne Lise ^b   Kang, Wenfei ^c   Hébert, Jean M ^c   Bessières, Bettina ^d   Bodiguel, Valérie ^b   Collet, Catherine ^e   Legeai Mallet, Laurence ^f   Sharpe, Paul T ^a   Fallet Bianco, Catherine ^d  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^d Groupe Hospitalier Cochin Port Royal ^*  (France)

^e HÔPITAL LARIBOISIÈRE   (France)

^f INSERM   (France)

Author keywords

Central nervous system; Craniosynostosis; FGFR; Intellectual disability; Pfeiffer syndrome

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2;

ACROCEPHALOSYNDACTYLY; ALEXANDER DISEASE; AMYGDALOID NUCLEUS; ANIMAL TISSUE; ARTICLE; BRAIN MALFORMATION; BRAIN VENTRICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM MALFORMATION; CRANIOFACIAL SYNOSTOSIS; EMBRYO; FETUS; FGFR2 GENE; GENE; GENE MUTATION; HIPPOCAMPUS; HISTOPATHOLOGY; HUMAN; MOUSE; NEUROPATHOLOGY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ABORTED FETUS; ANIMALS; BRAIN; CRANIOSYNOSTOSES; GENETIC ASSOCIATION STUDIES; HUMANS; MICE; MUTATION; PHENOTYPE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2;

MUS;

EID: 84867865717     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35598     Document Type: Article

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