...Lucas Vieira Lacerda Pires; Eduardo Da Cás; Letícia Cole de Melo; Cleyde Mirian Aversa Nakaie; Vera Dermachi Aiello; Guilherme Lopes Yamamoto; Rachel Sayuri Honjo; Chong Ae Kim; Débora Romeo Bertola Introduction: Noonan syndrome (NS) is a Mendelian phenotype, member of the RASopathies, a group...

...Christian T. Hübner; Asmaa K. Amin; Daniela Dey; Robert Meyer; Thomas Eggermann Introduction: Mosaic variegated aneuploidy syndrome 2 (MVA2) and Noonan syndrome (NS) are 2 genetic disorders with overlapping clinical features, including intrauterine growth retardation, dysmorphic features, and heart...

...Julia Sleutjes; Lotte Kleimeier; Erika Leenders; Willemijn Klein; Jos Draaisma Noonan syndrome spectrum disorders are a group of phenotypically related conditions, resembling Noonan syndrome, caused by germline pathogenic variants in genes within the Ras/mitogen-activated protein kinase (Ras/MAPK...

...Eduardo Orrego-González; Carlos Martin-Restrepo; Alberto Velez-Van-Meerbeke Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare autosomal dominant disorder with an unknown prevalence. Characteristics of this disease include cutaneous, neurologic...

... in the newborn period. The majority of CFC syndrome cases arise by a mutation in the BRAF , MAP2K1 , MAP2K2 , or (rarely) KRAS genes. Germline KRAS mutations are identified in a minority of CFC and Noonan syndrome cases. Here, we describe a patient with a KRAS mutation presenting with a CFC syndrome phenotype...

... symptoms were collected from OMIM and NCBI GeneReviews databases for 6 syndromes: Noonan, Noonan syndrome with multiple lentigines, neurofibromatosis type 1, cardiofaciocutaneous, and Legius and Costello syndrome. The STRING tool was used for the identification of protein interactions. Six RASopathy...

...Rim Louati; N. Bouayed Abdelmoula; Imen Trabelsi; Dorra Abid; Christina Lissewski; Najla Kharrat; Samir Kamoun; Martin Zenker; Tarek Rebai Noonan syndrome (NS) and related disorders, which are now summarized under the term RASopathies, are caused by germline mutations in genes encoding protein...

...E.A. Croonen; W. Nillesen; C. Schrander; M. Jongmans; H. Scheffer; C. Noordam; J.M.T. Draaisma; I. van der Burgt; H.G. Yntema Noonan syndrome (NS) is an autosomal dominant disorder characterized by facial dysmorphisms, short stature and congenital heart defects. The disorder is genetically...

...E. Denayer; H. Peeters; L. Sevenants; M. Derbent; J.P. Fryns; E. Legius Noonan syndrome is a genetically heterogeneous disorder caused by mutations in PTPN11, SOS1, RAF1 and less frequently in KRAS, NRAS or SHOC2 . Here, we performed mutation analysis of NRAS and SHOC2 in 115 PTPN11, SOS1, RAF1...

...M.C. Digilio; F. Lepri; A. Baban; M.L. Dentici; P. Versacci; R. Capolino; R. Ferese; A. De Luca; M. Tartaglia; B. Marino; B. Dallapiccola Diagnosis within Noonan syndrome and related disorders (RASopathies) still presents a challenge during the first months of life, since most clinical features...

...M. Tartaglia; G. Zampino; B.D. Gelb Noonan syndrome (NS) is a relatively common, clinically variable and genetically heterogeneous developmental disorder characterized by postnatally reduced growth, distinctive facial dysmorphism, cardiac defects and variable cognitive deficits. Other associated...