LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference36 articles.
1. The LEOPARD (multiple lentigines) syndrome revisited;Gorlin;Birth Defects Orig Artic Ser,1971
2. Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease;Noonan;Am J Dis Child,1968
3. Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease;Tartaglia;Am J Hum Genet,2006
4. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome;Tartaglia;Nat Genet,2001
5. PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome;Kosaki;J Clin Endocrinol Metab,2002
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1. LEOPARD syndrome with PTPN11 gene mutation in monozygotic twins: A case description and literature review;ESC Heart Failure;2024-08-15
2. LEOPARD Syndrome;International Journal of Dermatology;2024-05-08
3. Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review;Genes;2024-03-31
4. RASopathies and cardiac manifestations;Frontiers in Cardiovascular Medicine;2023-07-17
5. Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines;Clinical Case Reports;2023-06
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