Genetic basis of single-suture synostoses: Genes, chromosomes and clinical implications

Child's Nervous System

Volumn 28, Issue 9, 2012, Pages 1301-1310

  Lattanzi, Wanda ^a,b   Bukvic, Nenad ^c   Barba, Marta ^b   Tamburrini, Gianpiero ^d   Bernardini, Camilla ^b   Michetti, Fabrizio ^a,b   Di Rocco, Concezio ^d  

^a Latium Musculoskeletal Tissue Bank   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c Section of Cytogenetics and Molecular Biology   (Italy)

^d FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

Author keywords

Chromosomal aberration; FGFR; Gene mutation; RUNX2; Single suture craniosynostosis; TWIST1

Indexed keywords

ARGININE; BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; CYTOSINE; FIBROBLAST GROWTH FACTOR RECEPTOR 1; FIBROBLAST GROWTH FACTOR RECEPTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR 3; GUANINE; TRANSCRIPTION FACTOR RUNX2; TRANSCRIPTION FACTOR TWIST; TYROSINE KINASE RECEPTOR;

ARTICLE; CHROMOSOME; CHROMOSOME ABERRATION; CHROMOSOME BREAKAGE; CHROMOSOME MUTATION; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL SYNOSTOSIS; DISEASE ASSOCIATION; DROSOPHILA; EPIGENETICS; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; OSSIFICATION; PHENOTYPE; PRIORITY JOURNAL; SKULL DEVELOPMENT;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CORE BINDING FACTOR ALPHA 1 SUBUNIT; CRANIAL SUTURES; CRANIOSYNOSTOSES; CYTOGENETICS; HUMANS; MODELS, GENETIC; MUTATION; NUCLEAR PROTEINS; RECEPTORS, FIBROBLAST GROWTH FACTOR; TWIST TRANSCRIPTION FACTOR;

EID: 84866087309     PISSN: 02567040     EISSN: 14330350     Source Type: Journal    
DOI: 10.1007/s00381-012-1781-1     Document Type: Article

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