Disease: Bicoronal synostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis 		0.020 GeneticVariation disease BEFREE Herein, we document a male infant with the distinctive facial features of ablepharon, hypertelorism, cheek pads adjacent to the corners of the mouth, and bilateral coronal suture craniosynostosis who had a de novo heterozygous mutation in the basic domain of TWIST1, that is, c.351C>G p.Glu117Asp. 30450715 2018
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis 		0.020 GeneticVariation disease BEFREE All patients with either bicoronal synostosis or unicoronal synostosis with syndromic features should be screened for TWIST1 mutations, as this confers a greater risk than nonsyndromic synostosis of the same sutures. 19483581 2009