Disease: Cutis Laxa, Autosomal Recessive, Type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268351
Disease: Cutis Laxa, Autosomal Recessive, Type I
Cutis Laxa, Autosomal Recessive, Type I 		0.300 GermlineCausalMutation disease ORPHANET Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. 19664000 2009
CUI: C0268351
Disease: Cutis Laxa, Autosomal Recessive, Type I
Cutis Laxa, Autosomal Recessive, Type I 		0.300 GermlineCausalMutation disease ORPHANET Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 16685658 2006