Article

Case Report: Biventricular hypertrophic obstructive cardiomyopathy in Patient with Noonan syndrome

2022-12-14

Abstract excerpt

<h4>Background: </h4> Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphology, and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of functi...

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Literature Corpus work: 9e338fd2-ffc0-5c75-b134-6a11c188a7e5
DOI: 10.21203/rs.3.rs-2350188/v1

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