impe0096p102 | Growth and Syndromes | IMPE2023
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 ...