Síndrome LEOPARD: una variante del síndrome de Noonan con fuerte asociación a miocardiopatía hipertrófica-Reference-Cited by-同舟云学术

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Síndrome LEOPARD: una variante del síndrome de Noonan con fuerte asociación a miocardiopatía hipertrófica

Published:2013-05 Issue:5 Volume:66 Page:350-356
ISSN:0300-8932
Container-title:Revista Española de Cardiología
language:es
Short-container-title:Revista Española de Cardiología

Author:

Carcavilla Atilano,Santomé José L.,Pinto Isabel,Sánchez-Pozo Jaime,Guillén-Navarro Encarna,Martín-Frías María,Lapunzina Pablo,Ezquieta Begoña

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular 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

Cited by 24 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review;Genes;2024-03-31

2. Treatment of Facial Lentigines in an Adult Female Patient Suspected with Leopard Overlap Noonan Syndrome;International Medical Case Reports Journal;2023-05

3. LEOPARD Syndrome (Multiple Lentigines; Lentiginosis Profusa);Neurocutaneous Disorders;2022

4. MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease;Genes;2021-12-21

5. Familial LEOPARD Syndrome With Hypertrophic Cardiomyopathy;The American Journal of Cardiology;2020-11

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