Work

Prenatal Diagnosis of Shwachman–Diamond Syndrome: Fetal Compound Heterozygous Variants in the SBDS Gene Associated With Mildly Straight Ribs

Year: 2025

Type: article

Study design: Case Report

Source: Prenatal Diagnosis

DOI: 10.1002/pd.6762

Authors: Linyan Zhu, Xuhong Wang, Yubo Shi, Xiaxi Huang, Huiqing Ding

Institutions: Ningbo University, Ningbo First Hospital

Language: English

Topic: Blood disorders and treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4408026148

FWCI: 0.552

Cites: 8

Cited by: 1

Related to: 10