Q289P mutation in the FGFR2 gene: First report in a patient with type 1 Pfeiffer syndrome

European Journal of Pediatrics

Volumn 168, Issue 9, 2009, Pages 1135-1139

  Piccione, Maria ^a   Antona, Vincenzo ^a   Niceta, Marcello ^b   Fabiano, Carmelo ^b   Martines, Manuela ^a   Bianchi, Alberto ^c   Corsello, Giovanni ^a  

^a UNIVERSITY OF PALERMO   (Italy)

^b UO Laboratorio di Genetica Molecolare   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Apert; Craniosynostosis; Crouzon; Fibroblast growth factor receptor; Finger and toes abnormalities; Pfeiffer

Indexed keywords

FGFR2 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR RECEPTOR 2;

ACROCEPHALOSYNDACTYLY; ARTICLE; CASE REPORT; CROUZON SYNDROME; EXON; FEMALE; GENETICS; HUMAN; INFANT; MALE; PHENOTYPE; POINT MUTATION;

ACROCEPHALOSYNDACTYLIA; CRANIOFACIAL DYSOSTOSIS; EXONS; FEMALE; HUMANS; INFANT; MALE; PHENOTYPE; POINT MUTATION; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2;

EID: 75549088951     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-008-0884-x     Document Type: Article

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