restrictive dermopathy 2

Summary
Definition
A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
Super Class
restrictive dermopathy
Disease Ontology
DOID:0070370
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4000 LMNA lamin A/C
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P02545 Prelamin-A/C

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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: April 7, 2025