Work

AUTS2 disruption underlies radioulnar synostosis and skeletal dysmorphogenesis: evidence from four unrelated cases

Year: 2025

Type: article

Study design: Case Report

Source: Journal of Medical Genetics

DOI: 10.1136/jmg-2025-110886

Authors: Cheng Liu, Fang Shen, Mei Deng, Chuanchun Yang, Luyang Zhao, Guanghui Zhu, Hua Wang, Zhuo Li, Yongjia Yang

Institutions: Hunan Children's Hospital, University of South China, Central South University

Language: English

Topic: Congenital limb and hand anomalies

Subfield: Developmental Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: National Natural Science Foundation of China, Natural Science Foundation of Hunan Province

Awards: G4122873797, G5754310281, G62313788

OpenAlex ID: W4412486824

FWCI: 0.847

Cites: 31

Cited by: 1

Related to: 10