Genetic causes of syndromic craniosynostoses

descriptionPublicationkeyboard_double_arrow_right Article 01 May 2013 English Publisher:Elsevier BVJournal:European Journal of Paediatric Neurology, volume 17, pages 221-224 (issn: 1090-3798,

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Authors: Aleksandra, Jezela-Stanek; Małgorzata, Krajewska-Walasek;

doi: 10.1016/j.ejpn.2012.09.009

pmid: 23062756

Genetic causes of syndromic craniosynostoses

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Abstract

Syndromic craniosynostose exhibit variable clinical and genetic heterogeneity. Many of this disorders are caused by mutations in the fibroblast growth factor receptor genes: FGFR2, FGFR3 (encoding fibroblast growth factor receptors), TWIST1 (functions as an upstream regulator of FGFRs) and EFNB1 (gene encoding fibrillin1). However recent advances in molecular genetics have led to a discover of other genes implicated in different craniosynostosis syndromes.

Related Organizations

Children's Memorial Health Institute
Poland

Keywords

Craniosynostoses, Humans, Syndrome, Acrocephalosyndactylia

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