autosomal dominant cutis laxa 2

Summary
Synonym
  • ADCL2
Definition
An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32.
Super Class
autosomal dominant cutis laxa
Disease Ontology
DOID:0070136
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10516 FBLN5 fibulin 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
23876 Fbln5 fibulin 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
29158 Fbln5 fibulin 5

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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