AEBP1, AE binding protein 1, 165

N. diseases: 69; N. variants: 6
Disease: Atrophic condition of skin ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		0.010 GeneticVariation group BEFREE Recently, bi-allelic loss-of-function mutations in the adipocyte enhancer-binding protein 1 (AEBP1) gene were reported in three families with an autosomal recessive EDS-like condition characterized by thin and hyperextensible skin, poor wound healing with prominent atrophic scarring, joint hypermobility and osteoporosis. 30668708 2019