Phenotypic diversity in patients with craniosynostoses unrelated to Apert syndrome: The role of fibroblast growth factor receptor gene mutations

Journal of Neurosurgery

Volumn 102 PEDIATRICS, Issue SUPPL. 1, 2005, Pages 23-30

  Ito, Susumu ^a   Sekido, Ken'ichi ^b   Kanno, Hiroshi ^b   Sato, Hironobu ^b   Tanaka, Masaaki ^b   Yamaguchi, Kazuo ^b   Yamamoto, Isao ^b  

^a YOKOHAMA CITY UNIVERSITY MEDICAL CENTER   (Japan)

^b NONE

Author keywords

Craniosynostosis; Fibroblast growth factor receptor; Genotype; Mutation; Pediatric neurosurgery; Phenotype

Indexed keywords

ARGININE; CYSTEINE; FIBROBLAST GROWTH FACTOR RECEPTOR; IMMUNOGLOBULIN;

ACROCEPHALOSYNDACTYLY; ADOLESCENT; ADULT; ANTLEY BIXLER SYNDROME; ARTICLE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HEREDITY; HUMAN; JOINT CONTRACTURE; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; CHILD; CONGENITAL MALFORMATION; GENETICS; HOSPITALIZATION; INFANT; NUCLEOTIDE SEQUENCE; PATHOLOGY; SIGNAL TRANSDUCTION; SKULL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; PHENOTYPE; RECEPTORS, FIBROBLAST GROWTH FACTOR; SEVERITY OF ILLNESS INDEX; SIGNAL TRANSDUCTION; SKULL;

EID: 17644416822     PISSN: 00223085     EISSN: 00223085     Source Type: Journal    
DOI: 10.3171/ped.2005.102.1.0023     Document Type: Article

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