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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao American Journal of ...arrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
American Journal of Medical Genetics Part C Seminars in Medical Genetics
Article . 2022 . Peer-reviewed
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Endocrinological manifestations in RASopathies

Authors: Federica Tamburrino; Emanuela Scarano; Concetta Schiavariello; Annamaria Perri; Andrea Pession; Laura Mazzanti;

Endocrinological manifestations in RASopathies

Abstract

AbstractThe evaluation of endocrine involvement in RASopathies is important for the care and follow‐up of patients affected by these conditions. Short stature is a cardinal feature of RASopathies and correlates with multiple factors. Growth hormone treatment is a therapeutic possibility to improve height and quality of life. Assessment of growth rate and growth laboratory parameters is routine, but age at start of therapy, dose and effects of growth hormone on final height need to be clarified. Puberty disorders and gonadal dysfunction, in particular in males, are other endocrinological areas to evaluate for their effects on growth and development. Thyroid dysfunction, autoimmune disease and bone involvement have also been reported in RASopathies. In this brief review, we describe the current knowledge on growth, growth hormone therapy, endocrinological involvement in patients affected by RASopathies.

Keywords

Male, Human Growth Hormone, Growth Hormone, Puberty, Quality of Life, Humans, Body Height

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
7
Top 10%
Average
Top 10%
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