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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cutis laxa
Comorbidity C0013990|emphysema
Sentences 3
PubMedID- 23506607 emphysema associated with acquired cutis laxa.
PubMedID- 20600892 Heterozygous elastin gene mutations cause autosomal dominant cutis laxa associated with emphysema and aortic aneurysms.
PubMedID- 24962763 cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel fbln5 mutation.

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