autosomal dominant cutis laxa 1

Summary
Synonym
  • ADCL1
Definition
An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11.
Super Class
autosomal dominant cutis laxa
Disease Ontology
DOID:0070130
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2006 ELN elastin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024