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Browse result for Legius syndrome
※ introduction Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots. It was first described in 2007 and is often mistaken for neurofibromatosis type I. It is caused by mutations in the SPRED1 gene. It is also known as neurofibromatosis type 1-like syndrome.
Reference
Wiki: Legius syndrome
Reference
Wiki: Legius syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD08879 | Q7Z699 | 16174 | SPRED1 | Sprouty-related, EVH1 domain-containing protein 1 | Homo sapiens |
