Noonan syndromeRASopathiesThis study aimed to assess the nature of peripheral nervous system (PNS) involvement in three patients with Noonan syndrome (NS) or NS with multiple lentigines (NSML) as a related RASopathy, presenting primary with intractable neuropathic pain. We studied three unrelated ...
[7] Umeki I, Niihori T, Abe T, et al. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes[J]. Hum Genet, 2019,138(1):21-35. DOI: 1...
Infantile III et Ge´ne´tique Clinique, Hoˆpital d'Enfants CHU de Nancy, Vandoeuvre Cedex, Faculte´ de Me´decine Nancy Universite´ Henri Poincare´, Vandoeuvre Cedex, Vandoeuvre, France We report five cases of multiple giant cell lesions in patients with typical Noonan syndrome. ...
Noonan Syndrome: Characteristics and Interventions provides an in-depth analysis on this disorder that pediatric endocrinologists and primary care clinicians can use to make sure t ... read full description Purchase book Share this bookBrowse content ...
A 3-year-old girl with thin hair.###Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type.###Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations.###Short anagen syndrome.###Noona...
Noonan syndrome (NS) is a developmental disorder caused by mutations of Src homology 2 domain-containing protein tyrosine phosphatase 2 (SHP2). Although NS patients have diverse neurological manifestations, the mechanisms underlying the involvement of SH
Although Noonan syndrome is a relatively common congenital disorder with autosomal dominant inheritance, its association with cerebrovascular anomalies is rare. We report a case of a 20-year-old with Noonan syndrome with cerebrovascular aneurysm, who underwent successful endovascular coil...
Here, we report the case of a 14‐year‐old boy with Noonan syndrome‐like disorder in whom LMCAOA was detected following cardiopulmonary arrest. The patient had been diagnosed with Noonan syndrome‐like disorder with a pathogenic splice site variant of CBL c.1228‐2 A?>?G. He suddenly ...
Noonan syndrome;cognitive impairments;functional magnetic resonance imaging;intelligence tests 2. Materials and Methods Participants were recruited from a cohort of families who were followed up at the Department of Medical Genetics at the Institute of Mother and Child (Warsaw, Poland). All participants...
Noonan syndrome (NS) is a genetic disorder mainly caused by gain-of-function mutations in Src homology region 2-containing protein tyrosine phosphatase 2 (SHP2). Although diverse neurological manifestations are commonly diagnosed in NS patients, the mechanisms as to how SHP2 mutations induce the ne...