Unraveling the Genetic Puzzle: Could MAP3K7 Be a Candidate Gene for RASopathies? Case Presentation
Unraveling the Genetic Puzzle: Could MAP3K7 Be a Candidate Gene for RASopathies? Case Presentation
About this item
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Author / Creator
Publisher
Turkey
Journal title
Language
English
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Publisher
Turkey
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Scope and Contents
Contents
Noonan Syndrome (NS) diagnosis is challenging due to diverse clinical manifestations. Here, our case report highlights
's novel role in NS. A 10.4-year-old female patient presented with short stature and suggestive clinical findings of RASopathy. Despite atypical facial features, the patient met two major diagnostic criteria of Van der Burgt.Ini...
Alternative Titles
Full title
Unraveling the Genetic Puzzle: Could MAP3K7 Be a Candidate Gene for RASopathies? Case Presentation
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Record Identifier
TN_cdi_proquest_miscellaneous_3117617976
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3117617976
Other Identifiers
ISSN
1308-5727,1308-5735
E-ISSN
1308-5735
DOI
10.4274/jcrpe.galenos.2024.2024-3-5
