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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cutis laxa
Comorbidity C0003486|aortic aneurysms
Sentences 2
PubMedID- 20600892 Heterozygous elastin gene mutations cause autosomal dominant cutis laxa associated with emphysema and aortic aneurysms.
PubMedID- 25934097 Mutations in fibulin-4 cause cutis laxa with thoracic aortic aneurysms (taas).

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