Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis

Journal of Medical Genetics

Volumn 34, Issue 8, 1997, Pages 632-636

  Reardon, William ^a   Wilkes, David ^a   Rutland, Paul ^a   Pulleyn, Louise J ^a   Malcolm, Sue ^a   Dean, John C S ^b   Evans, Robert D ^c   Jones, Barry M ^c   Hayward, Richard ^c   Hall, Christine M ^c   Nevin, Norman C ^d   Baraitser, Michael ^a   Winter, Robin M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF ABERDEEN   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d BELFAST CITY HOSPITAL   (United Kingdom)

Author keywords

Craniosynostosis; FGFR3; pro250arg mutation

Indexed keywords

ARGININE; FIBROBLAST GROWTH FACTOR RECEPTOR; PROLINE; RECEPTOR SUBTYPE;

ACROCEPHALOSYNDACTYLY; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; FEMALE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RECEPTOR GENE;

EID: 16944366124     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.8.632     Document Type: Article

References (23)

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