Disease: Congenital contractural arachnodactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.020 GeneticVariation disease BEFREE All patients were initially suspected to have Larsen syndrome or Beals syndrome but were subsequently diagnosed with a TGFBR2 mutation diagnostic of Loeys-Dietz syndrome. 17470566 2007
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.020 Biomarker disease BEFREE FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. 17345643 2007