Noonan Syndrome: New Insights in Clinical and Genetic Features
A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Endocrinology & Metabolism".
Deadline for manuscript submissions: closed (31 March 2022) | Viewed by 9563
Special Issue Editor
2. Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands
Interests: noonan syndrome; growth; growth hormone; genotype-phenotype relationships; prader willi syndrome; syndromes (in general)
Special Issue Information
Dear Colleagues,
Noonan syndrome is a multisystem genetic disorder with an estimated incidence of 1 in 1000 to 1 in 2500 live births. Noonan syndrome is diagnosed clinically by the observation of key features: characteristic face, congenital heart defects, and short stature. Noonan syndrome is predominantly an autosomal-dominant condition, genetically and clinically heterogeneous, and the most common syndrome among RAS-o-pathies. RAS-o-pathies are a clinically defined group of syndromes caused by germline mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway. The RAS/MAPK pathway plays an essential role in regulating the cell cycle, cellular growth, differentiation, and senescence, all of which are critical to normal development.
Over the last decade, knowledge on clinical and genetic features and pathophysiologic backgrounds of Noonan syndrome has increased. This Special Issue on “Noonan Syndrome: New Insights in Clinical and Genetic Features” is focused on both clinical as well as basic and translational research in this field. In particular, original and up-to-date review articles are solicited regarding clinical and genetic aspects, disease models, and molecular mechanisms of Noonan syndrome. Moreover, studies on upcoming therapeutic approaches are also of interest.
Prof. Dr. Cees Noordam
Guest Editor
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Keywords
- Noonan syndrome
- clinical
- genetic
- therapy
- RAS-o-pathy
- translational
- endocrine
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