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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 with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, [2] is a rare autosomal dominant, [3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene . The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular ...
Jacqueline Anne Noonan (October 28, 1928 – July 23, 2020) was an American pediatric cardiologist best known for her characterization of a genetic disorder now called Noonan syndrome. [ 1 ] [ 2 ] She was also the original describer of hypoplastic left heart syndrome .
Capillary malformation-AV malformation syndrome (CV-AVM) Cardiofaciocutaneous syndrome (CFC) Neurofibromatosis type I (NF1) Noonan syndrome (NS) Costello syndrome (CS) Legius syndrome, also known as NF1-like syndrome; Noonan syndrome with multiple lentigines (NSML), formerly called LEOPARD syndrome; SYNGAP1-related intellectual disability
Lutembacher's syndrome: Malpuech facial clefting syndrome: Marden–Walker syndrome: Marfan syndrome: McKusick–Kaufman syndrome: McLeod syndrome: Noonan syndrome: Noonan syndrome with multiple lentigines: Ortner's syndrome: Bouveret Hoffmann syndrome: another name for "Paroxysmal tachycardia" Patau syndrome: genetic (Chromosome 13) Pre ...
The government is pulling every regulatory lever available to quietly define and enforce mandatory cybersecurity minimums on the entire economy.
It is a feature of Turner syndrome [1] (only found in girls) and Noonan syndrome, [2] as well as the rarer Klippel–Feil syndrome, [3] or Diamond–Blackfan anemia. [ 4 ] References
A gastrointestinal illness has broken out this week on the Radiance of the Seas cruise ship, according to the US Centers for Disease Control and Prevention. Some 89 of the 2,164 passengers onboard ...