Abstract Search

hrp0092rfc6.1 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

EFTUD2 Gene Deficiency Disturbs Maturation of Osteoblast and Inhibits Chondrocyte Differentiation via Activated p53 Signaling

Wu Jing , Yang Yi , He You , Li Qiang , Wang Xu , Sun Chengjun , Wang Lishun , An Yu , Luo Feihong

Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia and short stature. Loss of function mutations of EFTUD2 were previously reported in MFDM, however, the mechanism underlying EFTUD2-associated skeletal dysplasia remains unclear. Here, we identified a novel frameshift mutation of EFTUD2 in a MFDM Chinese patient...

0 shares

ePoster

hrp0097rfc1.5 | Adrenals and HPA Axis | ESPE2023

Clinical and Genetic Characteristics of 42 Chinese Paediatric Patients with X-Linked Adrenal Hypoplasia Congenita

Zheng Wanqi , Duan Ying , Xia Yu , Liang Lili , Gong Zhuwen , Wang Ruifang , Lu Deyun , Zhang Kaichuang , Yang Yi , Sun Yuning , Zhang Huiwen , Han Lianshu , Gong Zizhen , Xiao Bing , Qiu Wenjuan

Background: X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), with limited clinical and genetic characterization.Methods: The clinical, biochemical, genetic, therapeutic, and follow-up data of 42 patients diagnosed with X-linked AHC were retrospectively analysed.Results: Hyperp...

0 shares

ESPE Abstracts

EFTUD2 Gene Deficiency Disturbs Maturation of Osteoblast and Inhibits Chondrocyte Differentiation via Activated p53 Signaling

Clinical and Genetic Characteristics of 42 Chinese Paediatric Patients with X-Linked Adrenal Hypoplasia Congenita

BiosciAbstracts