hrp0098p2-363 | Late Breaking | ESPE2024
Hou Lele
, Liu Zulin
, Zhang Lina
, Ou Hui
, Huang Siqi
, Dai Huilian
, Wang Dilong
, Meng Zhe
, Liang Liyang
Objective: This study aim ed to report four Chinese patients due to FBN1 mutations including one with geleophysic dysplasia (GD) and three with acromicric dysplasia (AD), and analyze the clinical and genetic features of all Chinese patients.Methods: The clinical features, laboratory tests and gene mutations of four Chinese patients with GD and AD were reported, and literatures were reviewed to analyze the clinic...