autosomal recessive cutis laxa type IC

Summary
Synonym
  • ARCL1C
  • autosomal recessive cutis laxa type 1C
Definition
A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13.
Super Class
autosomal recessive cutis laxa type I
Disease Ontology
DOID:0070139
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8425 LTBP4 latent transforming growth factor beta binding protein 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
108075 Ltbp4 latent transforming growth factor beta binding protein 4

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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