Work

[Pontocerebellar hypoplasia type 2D caused by compound heterozygous variants in the SEPSECS gene: A case report and literature review].

Year: 2025

Type: article

Study design: Case Report

Source: PubMed

DOI: 10.3760/cma.j.cn511374-20241015-00536

Authors: Xiaoyan Xuan, Xiaoke Zhao, Ling Zhang

Institutions: Nanjing Children's Hospital, Second Affiliated Hospital of Nanjing Medical University, Nanjing Medical University

Language: English

Topic: Fetal and Pediatric Neurological Disorders

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4415085668

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