Noonan syndrome with multiple lentigines 2

Summary
Synonym
  • LEOPARD syndrome 2
Definition
A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25.
Super Class
Noonan syndrome with multiple lentigines
Disease Ontology
DOID:0080549
Mondo Disease Ontology
MeSH
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5894 RAF1 Raf-1 proto-oncogene, serine/threonine kinase

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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