Article

Whole Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth

2020-01-28

Abstract excerpt

<title>Abstract</title> <p>Introduction Evaluation of short stature is a challenge for pediatricians and in the process, idiopathic short stature (ISS) is an often diagnosis of exclusion. Non-pathogenetic mutations affecting height may present with phenotypes similar to the pathogenetic mutations. In this study, we aim to identify the underlying genetic cause of short stature in patients diagnosed with ISS and in...

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Literature Corpus work: 9748def8-6e4d-5cda-b53e-a82f69fa0af1
DOI: 10.21203/rs.2.22066/v1

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