Results 1 - 10 of 19 for Noonan syndrome 3
  1. Genetics Home Reference: Noonan syndrome From the National Institutes of Health (National Library of Medicine)  
    ... Testing Registry: Noonan syndrome 2 Genetic Testing Registry: Noonan syndrome 3 Genetic Testing Registry: Noonan syndrome 4 Genetic Testing Registry: Noonan syndrome 5 ...
  2. ... of two other genetic conditions, Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms; however, it can be difficult to tell these conditions ... syndrome . How common is cardiofaciocutaneous ...
  3. Genetics Home Reference: Costello syndrome From the National Institutes of Health (National Library of Medicine)  
    ... other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome. In affected infants, it can be difficult to tell the three conditions apart based on their physical features. However, ...
  4. ... treatment providers. Cincinnati Children's Hospital: Cardiomyopathies Gene Review: Noonan ... Encyclopedia: Hypertrophic Cardiomyopathy You might also find ...
  5. Rare Diseases and Related Terms From the National Institutes of Health (Office of Rare Diseases)  
    ... 18 - See MED23 * Autosomal recessive Noonan syndrome - See Noonan syndrome ... Autosomal recessive optic atrophy type 3 - See Optic atrophy and cataract, autosomal dominant * Autosomal ...
  6. Cancer in Children and Adolescents From the National Institutes of Health (National Cancer Institute)  
    ... RB1 ( 7 ). However, retinoblastoma accounts for only about 3 percent of all cancers in children. Inherited mutations associated with certain familial syndromes, such as Li-Fraumeni syndrome , Beckwith-Wiedemann syndrome , Fanconi anemia syndrome, Noonan syndrome , and von Hippel-Lindau syndrome , also increase ...
  7. ... 35 percent of patients. The genetic cause for Noonan syndrome is a mutation of the PTPN11 gene. Children ... PTPN11 gene mutation may have features associated with Noonan syndrome. These typically include heart malformation, short stature, learning ...
  8. Causes of Cardiomyopathy (Children's Cardiomyopathy Foundation)  
    ... inherited metabolic or congenital muscle disorder such as Noonan syndrome, Pompe disease, fatty acid oxidation defect or Barth ... where a specific chromosome is deleted or duplicated. Noonan syndrome is the most common form associated with pediatric ...
  9. ... develop RMS as well as some other tumors. Noonan syndrome is a condition in which children tend to ...
  10. ... or structure of particular chromosomes. Other conditions, including Noonan syndrome and Alagille syndrome, result from mutations in single ... with critical congenital heart disease. Read more about Noonan syndrome ; Turner syndrome ; phenylketonuria ; Alagille syndrome ; 22q11.2 deletion ...
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