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National Repository of Grey Literature 2 records found  Search took 0.01 seconds. 
Genetics of Craniosynostosis.
 Valterová, Simona ; Křepelová, Anna (advisor) ; Baxová, Alice (referee)
Craniosynostoses are premature fusions of one or more cranial sutures. They affect all cranial sutures and are the main symptom of many genetic syndromes. Syndromes connected with craniosynostosis are serious disorders associated with skeleton abnormalities, limb malformations or mental disability. These syndroms are caused by different mutations in FGFR1, FGFR2, FGFR3, TWIST1, EFNB1, RECQL4, and RAB23 genes. The aim of this review was to summarize contemporary knowledge of phenotype and genetic basis of these diseases.
Detailed record
Genetics of Craniosynostosis.
 Valterová, Simona ; Křepelová, Anna (advisor) ; Baxová, Alice (referee)
Craniosynostoses are premature fusions of one or more cranial sutures. They affect all cranial sutures and are the main symptom of many genetic syndromes. Syndromes connected with craniosynostosis are serious disorders associated with skeleton abnormalities, limb malformations or mental disability. These syndroms are caused by different mutations in FGFR1, FGFR2, FGFR3, TWIST1, EFNB1, RECQL4, and RAB23 genes. The aim of this review was to summarize contemporary knowledge of phenotype and genetic basis of these diseases.
Detailed record

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1 Valterová, Šárka
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