Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 100, Issue 4, 2014, Pages 250-259

  Heuzé, Yann ^a   Martínez Abadías, Neus ^a,g   Stella, Jennifer M ^a   Arnaud, Eric ^b   Collet, Corinne ^c   García Fructuoso, Gemma ^d   Alamar, Mariana ^d   Lo, Lun Jou ^e   Boyadjiev, Simeon A ^f   Di Rocco, Federico ^b   Richtsmeier, Joan T ^a  

^a PENNSYLVANIA STATE UNIVERSITY   (United States)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c INSERM   (France)

^d HOSPITAL SANT JOAN DE DÉU   (Spain)

^e CHANG GUNG UNIVERSITY   (Taiwan)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g CENTRE FOR GENOMIC REGULATION CRG   (Spain)

Author keywords

Diagnosis; Genotype phenotype correspondence; Midfacial retrusion; Morphogenesis; Suture fusion

Indexed keywords

ACROCEPHALOSYNDACTYLY; ARTICLE; CASE REPORT; CHILD; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; FACE DYSMORPHIA; FEMALE; FIBROBLAST GROWTH FACTOR RECEPTOR GENE; FIBROBLAST GROWTH FACTOR RECEPTOR RELATED CRANIOSYNOSTOSIS SYNDROME; GENE MUTATION; GENOTYPE; HUMAN; INFANT; MALE; MUENKE SYNDROME; NEWBORN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; AMINO ACID SUBSTITUTION; CLINICAL TRIAL; FACIAL BONE; GENETIC DISORDER; GENETICS; MISSENSE MUTATION; MULTICENTER STUDY; PATHOLOGY; SYNDROME;

FGFR2 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR RECEPTOR 2;

AMINO ACID SUBSTITUTION; CRANIOSYNOSTOSES; FACIAL BONES; FEMALE; GENETIC DISEASES, INBORN; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; SYNDROME;

EID: 84899463010     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.23228     Document Type: Article

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