Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096p102 | Growth and Syndromes | IMPE2023

Trio whole-exome sequencing in patients with syndromic short stature of unknown cause

Dateki Sumito , Motokawa Midori , Kawamura Haruka , Haraguchi Kohei , Shirakawa Toshihiko , Mishima Hiroyuki , Yoshiura Koh-ichiro , Moriuchi Hiroyuki

Introduction: Short stature is a common phenotype among patients with congenital syndromic disorders. However, the clinical diagnosis of such patients is often difficult because of their rarity and phenotypic complexity.Objective: To investigate the genetic etiology of syndromic short stature of unknown cause in our institute.Methods: We performed trio whole-exome sequencing in 35 ...