LEOPARD Syndrome: Clinical Features and Gene Mutations
LEOPARD Syndrome: Clinical Features and Gene Mutations
About this item
Full title
Author / Creator
Publisher
Basel, Switzerland: S. Karger AG
Journal title
Language
English
Formats
Publication information
Publisher
Basel, Switzerland: S. Karger AG
Subjects
More information
Scope and Contents
Contents
The RAS/MAPK pathway proteins with germline mutations in their respective genes are associated with some disorders such as Noonan, LEOPARD (LS), neurofibromatosis type 1, Costello and cardio-facio-cutaneous syndromes. LEOPARD is an acronym, mnemonic for the major manifestations of this disorder, characterized by multiple lentigines, electrocardiogr...
Alternative Titles
Full title
LEOPARD Syndrome: Clinical Features and Gene Mutations
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3507272
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3507272
Other Identifiers
ISSN
1661-8769
E-ISSN
1661-8777
DOI
10.1159/000342251
