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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 ...
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]
Genetic conditions (including Turner Syndrome, Prader-Willi Syndrome, SHOX gene haploinsufficiency, and Noonan Syndrome) In adults, GH therapy has been FDA-approved to treat GHD and HIV-related ...
Familial multiple lentigines syndrome without systemic involvement [1] ... Noonan syndrome with multiple lentigines or Peutz–Jeghers syndrome. See also
Noonan syndrome with multiple lentigines (NSML), formerly called LEOPARD syndrome SYNGAP1-related intellectual disability Somatic mutations in the Ras/MAPK pathway can cause cancers and disorders such as RAS-associated autoimmune leukoproliferative disorder (RALD) or juvenile myelomonocytic leukemia (JMML).
These are spotted areas created by accumulation in the skin due to sun exposure. Due to a high irregularity any distinction from randomness defines lentiginosis. Although lentigines are benign, they be the signal of an underlying problem such as progressive cardiomyopathic lentiginosis, which can cause retardation in children. [2]
Noonan syndrome with multiple lentigines, a rare autosomal dominant multisystem disease This page was last edited on 12 February 2023, at 17:18 (UTC). Text is ...
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