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Clinical overview on RASopathies.

Martin Zenker1

  • 1Institute of Human Genetics, University Hospital Magdeburg, Medical Faculty, Otto-von-Guericke University, Magdeburg, Germany.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|November 25, 2022
PubMed
Summary
This summary is machine-generated.

RASopathies are developmental disorders from RAS-MAPK pathway genetic variations. This review details the common "Noonan syndrome-like" phenotype and advances in understanding RASopathy genetics and classification.

Keywords:
Costello syndromeLEOPARD syndromeNoonan syndromeNoonan syndrome with multiple lentiginesNoonan syndrome-like disorder with loose anagen haircardiofaciocutaneous syndrome

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Area of Science:

  • Genetics
  • Developmental Biology
  • Molecular Signaling

Background:

  • RASopathies are a group of developmental disorders.
  • They are caused by genetic variations affecting the RAS-MAPK signaling pathway.
  • These variations lead to dysregulated signal flow within the pathway.

Purpose of the Study:

  • To review the spectrum of RASopathies, including Noonan syndrome and related disorders.
  • To describe the

Main Methods:

  • Literature review of genetic alterations and genotype-correlations in RASopathies.
  • Analysis of phenotypic similarities and differences across RASopathy spectrum disorders.

Main Results:

  • The

Conclusions:

  • The