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MIRAGE
congenital symmetric circumferential skin creases 1

Summary
Synonym
  • CSCSC1
Definition
A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33.
Super Class
autosomal dominant disease multiple benign circumferential skin creases on limbs
Disease Ontology
DOID:0112242
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
203068 TUBB tubulin beta class I
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P07437 Tubulin beta chain
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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: March 31, 2025