Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature.

ABSTRACT:

Context

Data and studies based on exome sequencing for the genetic evaluation of short stature are limited, and more large-scale studies are warranted. Some factors increase the likelihood of a monogenic cause of short stature, including skeletal dysplasia, severe short stature, and small for gestational age (SGA) without catch-up growth. However, whether these factors can serve as predictors of molecular diagnosis remains unknown.

Objective

We aimed to explore the diagnostic efficiency of the associated risk factors and their exome sequences for screening.

Methods

We defined and applied factors that increased the likelihood of monogenic causes of short stature in diagnostic genetic tests based on next-generation sequencing (NGS) in 814 patients with short stature and

SUBMITTER: Li X 

PROVIDER: S-EPMC8947318 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature