Article

Diagnostic Whole Exome Sequencing in Patients with Short Stature

2018-09-12

Abstract excerpt

Short stature is among the most common reasons for children being referred to the pediatric endocrinology clinics. The cause of short stature is broad, in which genetic factors play a substantial role, especially in primary growth disorders. However, identifying the molecular causes for short stature remains as a challenge because of the high heterogeneity of the phenotypes. Here, whole exome sequencing (WES) was...

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Literature Corpus work: 48bc454b-743a-57af-ba31-9d207c28f4de
DOI: 10.1101/414987

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