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Noonan syndrome: MedlinePlus Genetics
Noonan syndrome is a condition that affects many areas of the body. Explore symptoms, inheritance, genetics of this condition.
Noonan Syndrome - GeneReviews® - NCBI Bookshelf
2001年11月15日 · A study of 37 individuals with a molecular genetic diagnosis of Noonan syndrome demonstrated a higher incidence of emotional dysregulation, irritability, and anxiety …
Noonan Syndrome - StatPearls - NCBI Bookshelf
2023年1月9日 · Noonan syndrome is a genetically inherited disease with heterogeneous, phenotypic manifestations. Gene mutations involve the RAAS/MAPK (mitogen-activated …
About Noonan Syndrome - National Human Genome Research …
2013年12月23日 · Noonan syndrome is inherited in families in an autosomal dominant pattern. This means that a person who has Noonan syndrome has one copy of an altered gene that …
Noonan syndrome - Symptoms and causes - Mayo Clinic
2023年5月25日 · Noonan syndrome is a genetic condition that stops typical development in various parts of the body. It can affect a person in several ways, including unusual facial …
Noonan syndrome | About the Disease | GARD - Genetic and …
Noonan syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may …
Noonan syndrome - Wikipedia
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. [1] . …
Noonan Syndrome (Leopard Syndrome): Causes & Outlook - Cleveland Clinic
Noonan syndrome is a genetic condition that can affect many parts of your child’s body. While symptoms vary widely, they most often include unusual facial features, short stature and heart …
Noonan syndrome: genetic and clinical update and treatment options
2020年7月1日 · NS is a clinically and genetically heterogeneous condition, with variable expressivity and a changing phenotype with age, and affects multiple organs and systems.
Noonan Syndrome - Children's Hospital of Philadelphia
Noonan syndrome is a genetic disorder characterized by short stature, distinctive facial features, heart defects, bleeding problems and skeletal abnormalities. Most individuals with Noonan …