Objective To evaluate the presence of multiple genetic diagnoses in syndromic growth
disorders. Study design We carried out a cross-sectional study to evaluate 115 patients with …

Background As syndromic short stature and overgrowth are heterogeneous and the list of
causative genes is rapidly expanding, there is an unmet need for identifying genetic causes …

Objective To perform a prospective genetic investigation using whole exome sequencing of
a group of patients with syndromic short stature born small for gestational age of unknown …

Purpose We used next-generation sequencing (NGS) to investigate the genetic causes of
suspected genetic short stature in 37 patients, and we describe their phenotypes and …

Abstract Background/Aims: Genetic imbalances are responsible for many cases of short
stature of unknown etiology. This study aims to identify recurrent pathogenic copy number …

Abstract Background/Aims: The genetics of human height is a frequently studied and
complex issue. However, there is limited genetic research of short stature. To uncover the …

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 …

Abstract Background/Aims: Short stature is a common reason for presentation to pediatric
endocrinology clinics. However, for most patients, no cause for the short stature can be …

Background Children with short stature of undefined aetiology (SS-UA) may have
undiagnosed genetic conditions. Purpose To identify mutations causing short stature (SS) …

Increased application of next generation sequencing has led to the discovery of a multitude
of new neurodevelopmental syndromes, contributing to an increased diagnostic rate for …