Work

Novel variant of COL12A1 gene causing neonatal hypotonia and respiratory failure

Year: 2025

Type: article

Study design: Case Report

Source: Neurological Sciences

DOI: 10.1007/s10072-025-08028-7

Authors: Huizhi Huang, Luyao Deng, Yu Zhang, Ying Wang, Dongya Yan, Xianhong Lin, Yan Wang, Yingyan Wang, Xiaofeng Hu

Institutions: Anhui Medical University, Anhui Provincial Children's Hospital, University of Science and Technology of China

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4407860860

FWCI: 2.334

Cites: 27

Cited by: 4

Related to: 10