Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		0.790 GermlineCausalMutation ORPHANET Although enhanced TGFβ signaling caused by FBN1 mutations can trigger either Marfan syndrome or GD and AD, our findings support the fact that TB5 mutations in FBN1 are responsible for short stature phenotypes. 21683322

2011