Work

Aberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2

Year: 2025

Type: article

Study design: Case Report

Source: Prenatal Diagnosis

DOI: 10.1002/pd.6821

Authors: Cong Zhou, Xihan Wang, Shuo Yang, Jingqun Mai, Jing Zhao, Jing Wang

Institutions: Sichuan University, West China Second University Hospital of Sichuan University, Chengdu Medical College

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4410894475

FWCI: 0.552

Cites: 7

Cited by: 1

Related to: 10