Genetic causes of syndromic craniosynostoses.
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.
Department of Medical Genetics, The Children's Memorial Health Institute, Aleja Dzieci Polskich 20, Warsaw, Poland. jezela@gmail.com
Aleksandra
A
Jezela-Stanek
Małgorzata
M
Krajewska-Walasek
D000168:Acrocephalosyndactylia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D003398:Craniosynostoses / Q000145:classification / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D013577:Syndrome