Work

Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 Gene

Year: 2025

Type: article

Study design: Case Report

Source: Clinical Genetics

DOI: 10.1111/cge.14756

Authors: Evgeniya Melnik, Tatiana Markova, Yana Fedotova, Eugene Tatarskiy, Viktoria Zabnenkova, Vitaly Kadyshev, Vladimir Kenis, Galina Buyanova, Mikhail Skoblov, Elena Dadali

Institutions: Research Centre for Medical Genetics, Ministry of Health of the Russian Federation, The Turner Scientific Research Institute for Children's Orthopedics

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: W4409865908

FWCI: 2.685

Cites: 11

Cited by: 5

Related to: 10