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- W4313888911 abstract "Short stature is a common concern for physicians caring for children. In traditional investigations, about 70% of children are healthy, without producing clinical and laboratory findings that justify their growth disorder, being classified as having constitutional short stature or idiopathic short stature (ISS). In such scenarios, the genetic approach has emerged as a great potential method to understand ISS. Over the last 30 years, several genes have been identified as being responsible for isolated short stature, with almost all of them being inherited in an autosomal-dominant pattern. Most of these defects are in genes related to the growth plate, followed by genes related to the growth hormone (GH)–insulin-like growth factor 1 (IGF1) axis and RAS-MAPK pathway. These patients usually do not have a specific phenotype, which hinders the use of a candidate gene approach. Through multigene sequencing analyses, it has been possible to provide an answer for short stature in 10–30% of these cases, with great impacts on treatment and follow-up, allowing the application of the concept of precision medicine in patients with ISS. This review highlights the historic aspects and provides an update on the monogenic causes of idiopathic short stature and suggests what to expect from genomic investigations in this field." @default.
- W4313888911 created "2023-01-10" @default.
- W4313888911 creator A5002329561 @default.
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- W4313888911 creator A5056408960 @default.
- W4313888911 creator A5063720286 @default.
- W4313888911 creator A5073759451 @default.
- W4313888911 date "2023-01-09" @default.
- W4313888911 modified "2023-10-16" @default.
- W4313888911 title "Idiopathic Short Stature: What to Expect from Genomic Investigations" @default.
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