Importance Currently, the diagnostic yield of exome sequencing (ES) and chromosomal
microarray analysis (CMA) for short stature cohorts is uncertain. Despite previous studies …

Background Short stature is a common human trait. More severe and/or associated short
stature is usually part of the presentation of a syndrome and may be a monogenic disease …

Introduction Next‐generation sequencing helps clinicians diagnose patients with suspected
genetic disorders. The current study aimed to investigate the diagnostic yield and clinical …

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 …

Short stature in children is a common reason for referral to a pediatric endocrinologist. A
myriad of genetic, nutritional, psychological, illness-related, and hormonal causes must be …

Background Short stature (SS) is defined as height more than 2 standard deviations below
the mean for age and sex. Hypothyroidism, celiac disease, growth hormone deficiency …

Objective ACAN gene variants, prevalent monogenic defects linked to short stature, are
characterized by impaired cartilage generation in growth plates. We aimed to unravel the …

I think that while the methodology of the study regarding included and excluded articles
seems appropriate, a significant limitation lies in the great heterogeneity observed within the …

Conclusions Genetic testing has deciphered new molecular mechanisms that govern growth
and confirm rare genetic disorders with short stature. This reiterates the need for a judicious …

La hipófisis es un órgano de gran relevancia en el organismo cuya función principal es en
control del sistema endocrino. Regula procesos fundamentales como la pubertad, el …